Why does my dog not have a definitive trait genotype?
Dogs have 39 pairs of chromosomes, with one chromosome in each pair coming from the mother and the other from the father. Each chromosome in a pair carries a copy of the same gene, and these copies can be identical or have slight variations. As a result, every gene in a dog is represented by two copies- one on each chromosome. You may see a trait result that does not have a definitive genotype listed. This could be because our system cannot always detect which copy of the gene a variant is in, your dog has a no call for a subloci, or your dog has a merle allele. You can find more info on specific scenarios below:
If your dog has an “Eme or Ee” or “Eme or Eae” result:
Our analysis indicates that the e1 and Em variants can sometimes occur on the same copy of the MC1R gene. When the variants are on the same copy of MC1R, we expect that copy of the gene to function as an "e" allele, and the other copy to function as an “E” allele or an “Ea” allele if the Ea variant is present. If the variants are on different copies of MC1R, we expect one copy of the gene to function as an "Em" allele and one to function as an "e" allele. With our current technology, we cannot determine if the E locus variants your dog has are on the same copy of the gene or not, without also genotyping the parents. As such, we provide an “Eme or Ee” or “Eme or Eae” result as we feel this is the most accurate way to report our findings.
If your dog has a “Bb or bb” result:
There are four B locus variants that Embark tests for known as Bs, Bd, Bn, and Bc. A dog needs at least one of these variants in each of their two copies of the TYRP1 gene to express brown pigment.
Our analysis indicates that the Bc and Bd or Bs variants can sometimes occur on the same copy of the TYRP1 gene. When the variants are on the same copy of TYRP1 and no other B locus variant is present on the other copy, we expect the dog to express black pigment. If the variants are on different copies of TYRP1, we expect the dog to express brown pigment. With our current technology, we cannot determine if these B locus variants are on the same copy of the gene or not. As such, we provide a “Bb or bb” result as we feel this is the most accurate way to report our findings.
If you need to determine if your dog is expressing black or brown pigment, we recommend taking a look at the pigment in their nose and paw pads. If your dog has brown pigment, you can assume they are likely “bb”. If your dog has black pigment, you can assume they are likely “Bb”.
If your dog has an “M*M*” or “M*m” result for the M locus:
Embark is not able to test for merle insertion or length via our current microarray at this time. As such we cannot provide a definitive genotype for the M locus. Due to the nature of microarray-based technology, Embark only queries the invariable end of the merle allele- the end that doesn’t change. We can reliably detect the invariable end in every merle dog we’ve queried. You can read more about this here.
If your dog has an “or” result and your dog’s specific case is not listed above:
For some of our tests, we look at multiple independent, physically separate mutations that together determine which alleles a dog has at a given locus. We refer to these separate mutations as subloci and use them to provide an overall genotype for your dog. When a dog has a no call at one of these subloci, we may not be able to provide a definitive genotype result and your dog may have multiple genotype possibilities listed.
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