OMIA 000201-9897 : Coat colour, agouti in Aepyceros melampus

In other species: horse , cattle , meadow voles , red fox , pig , sheep , domestic cat , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , Colocolo , Kodkod , Geoffroy's cat , Arabian camel

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2016

Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus.

Species-specific description: As reported by Miller et al. (2016), wild-type impala have a reddish-fawn coat. The other coat colour, black, appears to due to homozygosity for an autosomal recessive allele.

Inheritance: Miller et al. (2016) reported autosomal recessive inheritance of black, with confirmatory data to be published in a forthcoming paper.

Molecular basis: Miller et al. (2016): c.174delA is the likely causal mutation of autosomal recessive black

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP Aepyceros melampus - no genomic information (-..-) ASIP Ensembl

Reference


2016 Miller, S.M., Guthrie, A.J., Harper, C.K. :
Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyceros melampus). Anim Genet :, 2016. Pubmed reference: 26953229. DOI: 10.1111/age.12430.

Edit History


  • Created by Frank Nicholas on 26 Mar 2016
  • Changed by Frank Nicholas on 26 Mar 2016