OMIA 000209-30538 : Coat colour, dominant white in Vicugna pacos
Jones et al. (2019) concluded that their "data also support the hypothesis that the grey phenotype is autosomal dominant and that the mutation is most likely homozygous lethal."Markers: Jackling et al. (2012) provided evidence for "a strong association but not unequivocal relationship between the BEW phenotype and KIT genotype". Molecular basis: Jones et al. (2019) reported that their "results confirm that the classic grey phenotype in alpacas is the result of a c.376G>A (p.Gly126Arg) SNP in exon 3 of KIT." Clinical features: There is some evidence that the blue-eyed white (BEW) phenotype in alpacas is a variant of this locus (Jackling et al., 2012). Prevalence: Jones et al. (2019) reported that "an additional 488 alpacas were genotyped for this [c.376G>A; (p.Gly126Arg)] SNP using the tetra-primer amplification refractory mutation system PCR (Tetra-primer ARMS-PCR). All classic grey alpacas were observed to be heterozygous, and 99.3% of non-grey dark base colour alpacas were found to be homozygous for the wildtype allele [c.376G; p.126Gly] in this position." Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Vicugna pacos||-||no genomic information (-..-)||KIT||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Classic grey coat colour||KIT||missense||c.376G>A||p.(Gly126Arg)||2019||31297861|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Jones, M., Sergeant, C., Richardson, M., Groth, D., Brooks, S., Munyard, K. :|
|A non-synonymous SNP in exon 3 of the KIT gene is responsible for the classic grey phenotype in alpacas (Vicugna pacos). Anim Genet 50:493-500, 2019. Pubmed reference: 31297861. DOI: 10.1111/age.12814.|
|2012||Jackling, F.C., Johnson, W.E., Appleton, B.R. :|
|The Genetic Inheritance of the Blue-eyed White Phenotype in Alpacas (Vicugna pacos). J Hered :, 2012. Pubmed reference: 23144493. DOI: 10.1093/jhered/ess093.|
|2011||Valbonesi, A., Apaza, N., La Manna, V., Gonzales, M.L., Huanca, T., Renieri, C. :|
|Inheritance of white, black and brown coat colours in alpaca (Vicuna pacos) Small Ruminant Research 99:16–19 , 2011.|
|2005||Gauly, M., Vaughan, J., Hogreve, SK., Erhardt, G. :|
|Brainstem auditory-evoked potential assessment of auditory function and congenital deafness in llamas (Lama glama) and alpacas (L. pacos). J Vet Intern Med 19:756-60, 2005. Pubmed reference: 16231723.|
- Created by Frank Nicholas on 12 Nov 2010
- Changed by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 13 Sep 2019