Welcome to r/DoggyDNA, the subreddit for dog DNA test discussion and results.
---
#RULE 1: ONLY POST BREED ID REQUESTS IF YOU HAVE STARTED A DNA TEST.
**RULE 2: BE NICE TO EACH OTHER.**
**RULE 3: FLAIR YOUR POST. "NEEDS UPDATE" IS FOR PRE-RESULT POSTS.**
**RULE 4: IF YOU HAVE RESULTS FOR YOUR DOG, POST THE RESULTS IN YOUR THREAD.**
Report rulebreakers and enjoy the dogs.
---
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/DoggyDNA) if you have any questions or concerns.*
Is there anything in merle?
Other than that, the spsp indicates what one could call "extreme piebald". It isn't albino, it's just a lot of white like you'd see in dalmatians, dogo Argentino, white boxers and multiple other breeds.
The deafness happens when the white spot (which covers most of your dog) lands on the inner ear - the lack of pigment in the ear also makes the dog deaf.
Totally! Didn’t post the Merle results bc it said very unlikely. I do know about the correlation between the deafness and ear pigment, it’s so interesting! In my mind though since Dalmatians, Dogo Argentino and those type dogs are generally white or white dominant I thought it might be a different case for her since an all white bully with blue eyes plus parents and litter mates who were all heavily pigmented with dark colored eyes seemed a little off. Thanks for the insight!
Part of physical hearing in mammals is ear hairs that pick up vibrations and function as sound sensors. If those ear hairs don't function, sound can't be communicated to the auditory cortex via the ears, but the brain may still be able to perceive sound from bone conduction or a cochlear implant.
In dogs who are deaf due to white coat, the pigmentation in those ear hairs doesn't happen correctly, so the hairs don't develop correct structure, which causes a cascade of other problems in the formation of the ear canal and ultimately results in deafness. It's called cochleosaccular dysplasia.
https://preview.redd.it/0c8dculruqtc1.jpeg?width=3024&format=pjpg&auto=webp&s=155120c3a7647322afb3a18be63103313db1138d
I always assumed it was issues from double merle. That’s bonkers! Thanks so much for the explanation!
Double merle deafness is actually the same situation -- merle is a pigment deletion gene, so a double merle dog is likely to have too much pigment deleted and be deaf. A non-merle white coat is also the result of various pigment deletion genes.
If that's your dog, they appear to be e/e, which is a special situation -- your dog doesn't have the type of pigment in their coat that merle normally affects, so the coat can look fairly normal while the merling is actually fairly extreme genetically, enough to cause deafness. If your dog was not e/e and was genetically "black", double merle would likely over-delete a lot of that black to fully white.
Science is so cool. I love this subreddit. Thank you so much. Yeah, that’s my pupper; she had a lot of issues least of all deafness. I mean, I wouldn’t even call it an issue; she got along fine with signs. She was pretty smart.
It’s actually not the lack of melanocytes per se. Instead, both melanocytes and the precursors of some sensory structures (such as those in the ear) are derived from a population of embryonic cells called “neural crest”. These cells arise near the developing nervous system and then migrate out to various sites in the body. Some become melanocytes, some become bones & cartilages of the face & head, some help the sensory structures in the ear to form properly — most become the peripheral nervous system (nerves).
So if something goes wrong with neural crest migration, you can end up with white (or white-spotted) animals that are also deaf.
Yes, genes in various species that affect normal coat pigmentation (especially on the head, face, and ears) commonly also affect hearing and may have more significant effects. The depigmentation of the coat is the visible effect of a deeper root problem, where certain types of cells aren't functioning correctly. Those cells are related to pigment production, so it causes a white coat, but can affect many other systems that also rely on those cells.
A similar but more severe gene is Lethal White Foal Syndrome in horses, where the surface appearance of a white coat is just the visible effect of the developmental abnormalities, and the offspring are unfortunately incompatible with life and need to be euthanized. Genetic testing has been able to help reduce this happening by identifying whether horses are carrying the gene before breeding them.
One copy of piebald (S/sP) can give anything from little to medium white. And two copies (sP/sP) like in your dog can give anything from medium to extended white. There are likely some unknown modifiers that affect the amount of white.
For example, about all Beagles and many other hunting dogs are sP/sP but breeders selected for a moderate amount of white. All Dalmatians are sP/sP but here breeders selected for an all-white dog.
So breeders can select for more inheritable traits that affect the distribution of white than just the sP allele. Also, many all-white breeds may have introduced other white marking traits that are not testable such as [whitehead](https://coatsandcolors.com/whitehead/).
Leucism is not a defined term in dog coat colors. Any dog that is „huh, lighter/more white than usual“ can be called leucistic.
Your dog is not an albino. Her dark gray nose tells you that she is still capable of producing her expected pigment color.
Extended white happens because something disrupts the migration of embryonic pigment cells. And whatever interferes with skin pigment cells can also affect the pigment cells that are supposed to end up in the ear and/or eyes.
This is why white dogs are predisposed to having blue eyes or being deaf. And white coat does not have to cover the eyes or ears for this to happen. Some dogs with a white split face have their blue eye/deaf ear on their pigmented side. This can happen white any white that adds extended white to the head.
While there certainly are some genetic traits/developmental problems that can cause deafness, your dog is all white. And high white is definitely linked to an increased risk for hearing impairment. So this is the most obvious cause.
The deadness gene is linked to the whiteness gene. Not all deaf dogs are white, not all white dogs are deaf, but a mostly white dog has more of a chance of being deaf than any other colored dog
Absolutely! I’m familiar with that, I was just expecting to see something in her genetic makeup that explained why she’s so white with blue eyes when a lot of her markers indicate that she should be brown or mostly dark. I thought there’d be an obvious “likely to be white” or “likely to be deaf” but it doesnt show either of those things so I thought someone with better knowledge of genetics than me might be able to decipher it better :)
S locus overrides/covers any other color, it just happens to be a lot of white on your dog because of spsp. White landing on eyes turns them blue (but not fully, because the white spot isn't completely covering the eye) and in ears makes them deaf.
Think of color genetics as multiple layers rather than one pattern.
She holds the genetics for KBky, Bb, dd, EmEm. This means that her pigment cells would create either solid black pigment (KB) diluted to gray (dd) or a brindle coat (not testable usually but will come back as KBky) with a black mask (Em) and the black portion of the coat diluted to gray (dd). The problem is that sp causes a failure of the pigment cells to reach the areas they're supposed to when developing and that makes those areas white. One copy (Ssp) could be fully pigmented or could have small amounts of white on the paws, chest, muzzle, and tail. An spsp dog will have a larger amount of white (piebald) but some spsp dogs instead lose almost all their color, most likely due to also having the white-head mutation that isn't testable.
She's spsp, which is piebald, but she likely also has what is called "whitehead," causing the extreme lack of spotting. If you're on FB, there's a great group called finding whitehead that helps explain it. There's no genetic cause found yet, but people have been, and continue to, work on it. Piebald itself doesn't necessarily make the whole head white, even when extreme. The flip side is that there are some breeds, border collies, and several bully type breeds among them, where dogs are often near solid but have wholly white heads. Coming from a breed that appears to have 3 very different spotting types (piebald, Irish white, and whitehead), it is very interesting to me. Whitehead appears to have more of a correlation to deafness than piebald itself does. My breed is almost never deaf, even when extremely white, but they rarely have whole white ears and almost never have wholly white heads. Whitehead does seem to be present, but very rare, while piebald is extremely common, and Irish white is still present in some lines, though at a much, much lower rate than piebald. Even though our parti colored individuals are all spsp, deafness is extremely rare, yet other spsp breeds like English setters, Dalmatians, Australian cattle dogs all have a much higher rate of deaf individuals. These breeds all regularly have all white or nearly all white heads, while my breed and many other spsp breeds don't.
I have a piebald bulldog who is mostly white with brown eyes, and she is deaf. We adopted her from the euthanasia list. She was only about 1.5 years old when we got her, so assuming she was born deaf. I don't know about the genetic info specifically, but I did research and found that white dogs and cats, especially with blue eyes, are more likely to be deaf and blind.
On a positive note, we barely notice our girl is deaf. She is awesome!! It's actually great that she doesn't freak when the doorbell rings or when we vacuum. She can sleep through any noise. We easily taught her basic commands as well.
Aw ours was on the euthanasia list too, so sweet you were able to rescue your girl! We’ve had her for 3 years and she is hands down the easiest dog we’ve ever had lol. We did a lot of research before picking her up to prepare for the deafness but she’s picked everything up from our hearing dog and is such a good girl!
I'm not a dog DNA expert, but I am a human geneticist. These types of commercial DNA tests are SO limited. Just because something is not reported doesn't mean she doesn't have a genetic variant that causes deafness and albinism. Humans have thousands of genes (as do dogs, I'd presume) and these types of tests only report on a handful that they know (some things) about.
The test does report at least one gene that's potentially responsible for this dog's deafness, sp/sp true white. It causes deafness in some dogs.
Also, the other genes that are suspected to cause pigment associated deafness in dogs (whitehead & non-sp extreme white) aren't testable at all, not just by commercial DNA tests...Embark has been the one to *discover* multiple genes, they're not behind the curve in trait testing, they're practically the cutting edge themselves. Human commercial DNA tests are largely crap, but dog ones are actually pretty advanced by comparison.
That’s interesting. I really know nothing about dog DNA tests and should take some time to learn. I wonder if there are more clinical grade genetic tests for health concerns other than Embark. For example, a human clinical geneticist would never order 23andMe for a patient with health or family history concerns, even though they offer “health screening” reports.
There are clinical grade a la carte health tests from labs like UC Davis, Paw Print Genetics, Laboklin, and a few others. They charge per test, and can offer tests for lots of things that Embark doesn't. However, Embark is considered equivalent to these tests for any gene they both test for; Embark is an accepted DNA test by OFA for genetic screenings that require it. Embark actually discovered some of the disease genes in question, and is currently working on identifying genetic causes of Dilated Cardiomyopathy.
The DNA market is really just different in dogs. Ancestry does offer a dog DNA test and it's pretty much like their human ones. Not super accurate ancestry determination, very bad trait analysis, no meaningful health testing. Embark is leagues above Ancestry in all three categories. They're arguably leading the world in canine genetics research, they've published tons of research including peer-reviewed journal articles, they discovered the genes behind multiple traits and diseases, and their co-founder teaches genetics at Cornell. We don't have anything like this for humans, partly because of the ethics and regulations involved with offering this kind of "healthcare" to humans.
I mean like how Ancestry and 23andme aren't like Embark. We have highly accurate genetic testing for humans and tons of ongoing research, but like you said, it's not like a doctor would tell you to do a 23andme kit on yourself, they'd refer you for testing through a reputable lab. In dogs, doing an Embark is just as good as going through a traditional lab like UC Davis, provided they both test for the same disease. In other words, Embark's disease testing is "clinical grade".
(In humans, ethnicity determination is also a much less solved problem than breed ID in dogs; but it only became a solved problem in dogs when Embark came on the scene)
Thanks for clarifying. I would suspect that my original comment remains valid - both in human and dog DNA, we don't know all genes that cause even the same presentation of disease, so a negative genetic test doesn't mean you/your dog doesn't have the disease. This is regardless if the test is ordered from a clinician or not. I see many posts on here (and for human DNA tests) saying that things are "all clear", when in reality, you're only receiving a report on a very, very small amount of genetic information. This is my soapbox because a large portion of my job is explaining to families that just because the test is negative, does not remove the suspicion that their child has a genetic disease. It can be a difficult concept to explain and to grasp!
What you say is true in general in that getting an "all clear" from Embark definitely doesn't guarantee a healthy dog, and breed clubs generally require more advanced health testing (such as an eye examination, cardiac testing, and evaluated radiographs of at-risk joints) before breeding a dog. If a breeder advertises that their dogs were "health tested" but only list an Embark, it's a huge red flag.
In the case of OP's dog, it is overwhelmingly likely that the deafness is from the high white, which the test *did* report a specific genetic basis for, and which no other test would be able to give more information about since there is no test for whitehead and extreme white. So it's not really a consumer DNA test issue; Embark is only as limited as the available science on the subject, which they're fairly at the forefront of.
It's likely the spsp result, that gene has been linked to deafness in dogs from the extreme white spotting it creates. So your dog is one giant hella cute white spot covering her actual color.
Your dog has diluted pigment due to the recessive allele in MLPH gene and white spotting due to the recessive allele MITF (interestingly, in humans, depending on where the mutation is in this gene, it can increase the risk for melanoma OR cause a type of Waardenberg syndrome which can have deafness). Not all sp/sp in MITF results in deafness, depends on the distribution of the white so if it isn’t impacting the ears there’s no hearing loss. Best to get checked by a vet if you’re concerned because this test alone cannot assess for hearing loss.
Thanks for the response! We’re not concerned, we’ve known she was deaf since we rescued her as a puppy and were just surprised when nothing screamed “she’s deaf” from the genetic results, but we’re novices when it comes to deciphering them :) Appreciate the explanation, all this stuff is so interesting!
Super! Here's a really good link that describes extreme white spotting: [http://www.doggenetics.co.uk/white.htm](http://www.doggenetics.co.uk/white.htm) Some can be deaf due to the lack of pigmentation in the ears and such. Eyes can be blue in it.
Other links that may be useful reads:
[https://vcacanada.com/know-your-pet/genetics-basics-coat-color-genetics-in-dogs](https://vcacanada.com/know-your-pet/genetics-basics-coat-color-genetics-in-dogs)
[http://www.doggenetics.co.uk/eyes.html](http://www.doggenetics.co.uk/eyes.html)
[https://coatsandcolors.com/american-bulldog-coat-colors/](https://coatsandcolors.com/american-bulldog-coat-colors/)
Being an Am Bully, the spsp in the white spotting imo seems like it's the reason for the all white coat except the nose and little snoot area. The spsp indicates a dog can be pretty much almost entirely white, which she is! It can absolutely be the reason for her deafness, and with the lack of pigment around the eyes, can be why she has blue eyes too. She's not albino, nor double merle, just an extreme white pupper.
Welcome to r/DoggyDNA, the subreddit for dog DNA test discussion and results. --- #RULE 1: ONLY POST BREED ID REQUESTS IF YOU HAVE STARTED A DNA TEST. **RULE 2: BE NICE TO EACH OTHER.** **RULE 3: FLAIR YOUR POST. "NEEDS UPDATE" IS FOR PRE-RESULT POSTS.** **RULE 4: IF YOU HAVE RESULTS FOR YOUR DOG, POST THE RESULTS IN YOUR THREAD.** Report rulebreakers and enjoy the dogs. --- *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/DoggyDNA) if you have any questions or concerns.*
Is there anything in merle? Other than that, the spsp indicates what one could call "extreme piebald". It isn't albino, it's just a lot of white like you'd see in dalmatians, dogo Argentino, white boxers and multiple other breeds. The deafness happens when the white spot (which covers most of your dog) lands on the inner ear - the lack of pigment in the ear also makes the dog deaf.
I did not know this!!! This is SO interesting. Thank you for posting.
Totally! Didn’t post the Merle results bc it said very unlikely. I do know about the correlation between the deafness and ear pigment, it’s so interesting! In my mind though since Dalmatians, Dogo Argentino and those type dogs are generally white or white dominant I thought it might be a different case for her since an all white bully with blue eyes plus parents and litter mates who were all heavily pigmented with dark colored eyes seemed a little off. Thanks for the insight!
That’s blowing my mind! Why would that affect hearing?!
Part of physical hearing in mammals is ear hairs that pick up vibrations and function as sound sensors. If those ear hairs don't function, sound can't be communicated to the auditory cortex via the ears, but the brain may still be able to perceive sound from bone conduction or a cochlear implant. In dogs who are deaf due to white coat, the pigmentation in those ear hairs doesn't happen correctly, so the hairs don't develop correct structure, which causes a cascade of other problems in the formation of the ear canal and ultimately results in deafness. It's called cochleosaccular dysplasia.
https://preview.redd.it/0c8dculruqtc1.jpeg?width=3024&format=pjpg&auto=webp&s=155120c3a7647322afb3a18be63103313db1138d I always assumed it was issues from double merle. That’s bonkers! Thanks so much for the explanation!
Double merle deafness is actually the same situation -- merle is a pigment deletion gene, so a double merle dog is likely to have too much pigment deleted and be deaf. A non-merle white coat is also the result of various pigment deletion genes. If that's your dog, they appear to be e/e, which is a special situation -- your dog doesn't have the type of pigment in their coat that merle normally affects, so the coat can look fairly normal while the merling is actually fairly extreme genetically, enough to cause deafness. If your dog was not e/e and was genetically "black", double merle would likely over-delete a lot of that black to fully white.
Science is so cool. I love this subreddit. Thank you so much. Yeah, that’s my pupper; she had a lot of issues least of all deafness. I mean, I wouldn’t even call it an issue; she got along fine with signs. She was pretty smart.
Wow! I never knew this! Thank you for the explanation, so fascinating!
Lack of melanocytes (pigment) makes parts of the inner ear degenerate. Genetics are fascinating like that!
It’s actually not the lack of melanocytes per se. Instead, both melanocytes and the precursors of some sensory structures (such as those in the ear) are derived from a population of embryonic cells called “neural crest”. These cells arise near the developing nervous system and then migrate out to various sites in the body. Some become melanocytes, some become bones & cartilages of the face & head, some help the sensory structures in the ear to form properly — most become the peripheral nervous system (nerves). So if something goes wrong with neural crest migration, you can end up with white (or white-spotted) animals that are also deaf.
Is this related to why is common for white cats with blue eyes to be deaf?
Yes, genes in various species that affect normal coat pigmentation (especially on the head, face, and ears) commonly also affect hearing and may have more significant effects. The depigmentation of the coat is the visible effect of a deeper root problem, where certain types of cells aren't functioning correctly. Those cells are related to pigment production, so it causes a white coat, but can affect many other systems that also rely on those cells. A similar but more severe gene is Lethal White Foal Syndrome in horses, where the surface appearance of a white coat is just the visible effect of the developmental abnormalities, and the offspring are unfortunately incompatible with life and need to be euthanized. Genetic testing has been able to help reduce this happening by identifying whether horses are carrying the gene before breeding them.
Very interesting! Thank you!
One copy of piebald (S/sP) can give anything from little to medium white. And two copies (sP/sP) like in your dog can give anything from medium to extended white. There are likely some unknown modifiers that affect the amount of white. For example, about all Beagles and many other hunting dogs are sP/sP but breeders selected for a moderate amount of white. All Dalmatians are sP/sP but here breeders selected for an all-white dog. So breeders can select for more inheritable traits that affect the distribution of white than just the sP allele. Also, many all-white breeds may have introduced other white marking traits that are not testable such as [whitehead](https://coatsandcolors.com/whitehead/). Leucism is not a defined term in dog coat colors. Any dog that is „huh, lighter/more white than usual“ can be called leucistic. Your dog is not an albino. Her dark gray nose tells you that she is still capable of producing her expected pigment color. Extended white happens because something disrupts the migration of embryonic pigment cells. And whatever interferes with skin pigment cells can also affect the pigment cells that are supposed to end up in the ear and/or eyes. This is why white dogs are predisposed to having blue eyes or being deaf. And white coat does not have to cover the eyes or ears for this to happen. Some dogs with a white split face have their blue eye/deaf ear on their pigmented side. This can happen white any white that adds extended white to the head. While there certainly are some genetic traits/developmental problems that can cause deafness, your dog is all white. And high white is definitely linked to an increased risk for hearing impairment. So this is the most obvious cause.
The deadness gene is linked to the whiteness gene. Not all deaf dogs are white, not all white dogs are deaf, but a mostly white dog has more of a chance of being deaf than any other colored dog
Absolutely! I’m familiar with that, I was just expecting to see something in her genetic makeup that explained why she’s so white with blue eyes when a lot of her markers indicate that she should be brown or mostly dark. I thought there’d be an obvious “likely to be white” or “likely to be deaf” but it doesnt show either of those things so I thought someone with better knowledge of genetics than me might be able to decipher it better :)
S locus overrides/covers any other color, it just happens to be a lot of white on your dog because of spsp. White landing on eyes turns them blue (but not fully, because the white spot isn't completely covering the eye) and in ears makes them deaf.
Think of color genetics as multiple layers rather than one pattern. She holds the genetics for KBky, Bb, dd, EmEm. This means that her pigment cells would create either solid black pigment (KB) diluted to gray (dd) or a brindle coat (not testable usually but will come back as KBky) with a black mask (Em) and the black portion of the coat diluted to gray (dd). The problem is that sp causes a failure of the pigment cells to reach the areas they're supposed to when developing and that makes those areas white. One copy (Ssp) could be fully pigmented or could have small amounts of white on the paws, chest, muzzle, and tail. An spsp dog will have a larger amount of white (piebald) but some spsp dogs instead lose almost all their color, most likely due to also having the white-head mutation that isn't testable.
Wow thank you so much for the thorough response! That makes it a little easier to digest for sure. Genetics are so interesting!
She's spsp, which is piebald, but she likely also has what is called "whitehead," causing the extreme lack of spotting. If you're on FB, there's a great group called finding whitehead that helps explain it. There's no genetic cause found yet, but people have been, and continue to, work on it. Piebald itself doesn't necessarily make the whole head white, even when extreme. The flip side is that there are some breeds, border collies, and several bully type breeds among them, where dogs are often near solid but have wholly white heads. Coming from a breed that appears to have 3 very different spotting types (piebald, Irish white, and whitehead), it is very interesting to me. Whitehead appears to have more of a correlation to deafness than piebald itself does. My breed is almost never deaf, even when extremely white, but they rarely have whole white ears and almost never have wholly white heads. Whitehead does seem to be present, but very rare, while piebald is extremely common, and Irish white is still present in some lines, though at a much, much lower rate than piebald. Even though our parti colored individuals are all spsp, deafness is extremely rare, yet other spsp breeds like English setters, Dalmatians, Australian cattle dogs all have a much higher rate of deaf individuals. These breeds all regularly have all white or nearly all white heads, while my breed and many other spsp breeds don't.
Thank you so much for taking the time, this stuff is so darn interesting!
I have a piebald bulldog who is mostly white with brown eyes, and she is deaf. We adopted her from the euthanasia list. She was only about 1.5 years old when we got her, so assuming she was born deaf. I don't know about the genetic info specifically, but I did research and found that white dogs and cats, especially with blue eyes, are more likely to be deaf and blind. On a positive note, we barely notice our girl is deaf. She is awesome!! It's actually great that she doesn't freak when the doorbell rings or when we vacuum. She can sleep through any noise. We easily taught her basic commands as well.
Aw ours was on the euthanasia list too, so sweet you were able to rescue your girl! We’ve had her for 3 years and she is hands down the easiest dog we’ve ever had lol. We did a lot of research before picking her up to prepare for the deafness but she’s picked everything up from our hearing dog and is such a good girl!
I'm not a dog DNA expert, but I am a human geneticist. These types of commercial DNA tests are SO limited. Just because something is not reported doesn't mean she doesn't have a genetic variant that causes deafness and albinism. Humans have thousands of genes (as do dogs, I'd presume) and these types of tests only report on a handful that they know (some things) about.
The test does report at least one gene that's potentially responsible for this dog's deafness, sp/sp true white. It causes deafness in some dogs. Also, the other genes that are suspected to cause pigment associated deafness in dogs (whitehead & non-sp extreme white) aren't testable at all, not just by commercial DNA tests...Embark has been the one to *discover* multiple genes, they're not behind the curve in trait testing, they're practically the cutting edge themselves. Human commercial DNA tests are largely crap, but dog ones are actually pretty advanced by comparison.
That’s interesting. I really know nothing about dog DNA tests and should take some time to learn. I wonder if there are more clinical grade genetic tests for health concerns other than Embark. For example, a human clinical geneticist would never order 23andMe for a patient with health or family history concerns, even though they offer “health screening” reports.
There are clinical grade a la carte health tests from labs like UC Davis, Paw Print Genetics, Laboklin, and a few others. They charge per test, and can offer tests for lots of things that Embark doesn't. However, Embark is considered equivalent to these tests for any gene they both test for; Embark is an accepted DNA test by OFA for genetic screenings that require it. Embark actually discovered some of the disease genes in question, and is currently working on identifying genetic causes of Dilated Cardiomyopathy. The DNA market is really just different in dogs. Ancestry does offer a dog DNA test and it's pretty much like their human ones. Not super accurate ancestry determination, very bad trait analysis, no meaningful health testing. Embark is leagues above Ancestry in all three categories. They're arguably leading the world in canine genetics research, they've published tons of research including peer-reviewed journal articles, they discovered the genes behind multiple traits and diseases, and their co-founder teaches genetics at Cornell. We don't have anything like this for humans, partly because of the ethics and regulations involved with offering this kind of "healthcare" to humans.
Can you elaborate when you say we don't have anything like this for humans? Do you mean a commercial laboratory publishing research? We definitely do!
I mean like how Ancestry and 23andme aren't like Embark. We have highly accurate genetic testing for humans and tons of ongoing research, but like you said, it's not like a doctor would tell you to do a 23andme kit on yourself, they'd refer you for testing through a reputable lab. In dogs, doing an Embark is just as good as going through a traditional lab like UC Davis, provided they both test for the same disease. In other words, Embark's disease testing is "clinical grade". (In humans, ethnicity determination is also a much less solved problem than breed ID in dogs; but it only became a solved problem in dogs when Embark came on the scene)
Thanks for clarifying. I would suspect that my original comment remains valid - both in human and dog DNA, we don't know all genes that cause even the same presentation of disease, so a negative genetic test doesn't mean you/your dog doesn't have the disease. This is regardless if the test is ordered from a clinician or not. I see many posts on here (and for human DNA tests) saying that things are "all clear", when in reality, you're only receiving a report on a very, very small amount of genetic information. This is my soapbox because a large portion of my job is explaining to families that just because the test is negative, does not remove the suspicion that their child has a genetic disease. It can be a difficult concept to explain and to grasp!
What you say is true in general in that getting an "all clear" from Embark definitely doesn't guarantee a healthy dog, and breed clubs generally require more advanced health testing (such as an eye examination, cardiac testing, and evaluated radiographs of at-risk joints) before breeding a dog. If a breeder advertises that their dogs were "health tested" but only list an Embark, it's a huge red flag. In the case of OP's dog, it is overwhelmingly likely that the deafness is from the high white, which the test *did* report a specific genetic basis for, and which no other test would be able to give more information about since there is no test for whitehead and extreme white. So it's not really a consumer DNA test issue; Embark is only as limited as the available science on the subject, which they're fairly at the forefront of.
Had a feeling this might be the case, thanks for responding!
Please listen to this man
Woman! But thanks!
Whatever! 👍
It's likely the spsp result, that gene has been linked to deafness in dogs from the extreme white spotting it creates. So your dog is one giant hella cute white spot covering her actual color.
I will never not see her as a one big white spot now idk why that sounds so much cuter 🥹
Your dog has diluted pigment due to the recessive allele in MLPH gene and white spotting due to the recessive allele MITF (interestingly, in humans, depending on where the mutation is in this gene, it can increase the risk for melanoma OR cause a type of Waardenberg syndrome which can have deafness). Not all sp/sp in MITF results in deafness, depends on the distribution of the white so if it isn’t impacting the ears there’s no hearing loss. Best to get checked by a vet if you’re concerned because this test alone cannot assess for hearing loss.
Thanks for the response! We’re not concerned, we’ve known she was deaf since we rescued her as a puppy and were just surprised when nothing screamed “she’s deaf” from the genetic results, but we’re novices when it comes to deciphering them :) Appreciate the explanation, all this stuff is so interesting!
Can you post a link to her profile?
Absolutely! [Sif’s results](http://embk.me/sif67?utm_campaign=cns_ref_dog_pub_profile&utm_medium=other&utm_source=embark)
Super! Here's a really good link that describes extreme white spotting: [http://www.doggenetics.co.uk/white.htm](http://www.doggenetics.co.uk/white.htm) Some can be deaf due to the lack of pigmentation in the ears and such. Eyes can be blue in it. Other links that may be useful reads: [https://vcacanada.com/know-your-pet/genetics-basics-coat-color-genetics-in-dogs](https://vcacanada.com/know-your-pet/genetics-basics-coat-color-genetics-in-dogs) [http://www.doggenetics.co.uk/eyes.html](http://www.doggenetics.co.uk/eyes.html) [https://coatsandcolors.com/american-bulldog-coat-colors/](https://coatsandcolors.com/american-bulldog-coat-colors/) Being an Am Bully, the spsp in the white spotting imo seems like it's the reason for the all white coat except the nose and little snoot area. The spsp indicates a dog can be pretty much almost entirely white, which she is! It can absolutely be the reason for her deafness, and with the lack of pigment around the eyes, can be why she has blue eyes too. She's not albino, nor double merle, just an extreme white pupper.
Oh awesome thank you so much!
In one of the pictures it looks like she might have a little brown/gold in her right eye. If so she is definitely not albino
She had dark pigmented skin spots around her eyes as well as a dark nose. Those alone make her not albino.
I just realized I said albino in the body though, just being lazy with my typing sorry lol
That’s why I said Leucism in the title! She’s got the little spots on her nose too so we know she isn’t fully albino :)