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Coat Colour, Agouti

Breeds
ALL

General

Disease Name
Coat Colour, Agouti
Disease Name 2
Coat Colour A-locus
OMIA
201
Gene Name
ASIP
Mutation
c.244G>T
Mutation 2
p.A82S
Mutation 3
c.248G>A
Mutation 4
p.R83H
Mutation 5
c.286C>T
Mutation 6
p.R96C
OMIM
611742
Test Type
Other Genetic Traits
Details
Agouti consists of four alleles: sable (Ay), agouti (aw), tan points (at), recessive black (a). Agouti alleles control which cells produce eumelanin (black or modified black pigment) and, for (aw), when. Please note that a dominant black dog may be genetically a sable, tan-point or agouti, but it will not be able to display it. In some breeds it's thought that the A locus genes may display incomplete dominance, with the appearance of the dog being affected by its more recessive allele as well as the more dominant one.
Details 2
Agouti consists of four alleles: sable (Ay), agouti (aw), tan points (at), recessive black (a). Agouti alleles control which cells produce eumelanin (black or modified black pigment) and, for (aw), when. Please note that a dominant black dog may be genetically a sable, tan-point or agouti, but it will not be able to display it. In some breeds it's thought that the A locus genes may display incomplete dominance, with the appearance of the dog being affected by its more recessive allele as well as the more dominant one.
Published
Kerns, JA., Newton, J., Berryere, TG., Rubin, EM., Cheng, JF., Schmutz, SM., Barsh, GS. : Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. Mamm Genome 15:798-808, 2004. Pubmed reference: 15520882. DOI: 10.1007/s00335-004-2377-1.
Published 2
Dreger, D.L., Schmutz, S.M. : A SINE Insertion Causes the Black-and-Tan and Saddle Tan Phenotypes in Domestic Dogs. J Hered :S11-8, 2011. Pubmed reference: 21846741. DOI: 10.1093/jhered/esr042.
Published 3
Dreger, D.L., Parker, H.G., Ostrander, E.A., Schmutz, S.M. : Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis. J Hered 104:399-406, 2013. Pubmed reference: 23519866. DOI: 10.1093/jhered/est012.
Published 4
Ciampolini, R., Cecchi, F., Spaterna, A., Bramante, A., Bardet, S.M., Oulmouden, A. : Characterization of different 5'-untranslated exons of the ASIP gene in black-and-tan Doberman Pinscher and brindle Boxer dogs. Anim Genet 44:114-7, 2013. Pubmed reference: 22524303. DOI: 10.1111/j.1365-2052.2012.02364.x.
Body/System/Process
Coat Colour/Pattern/Type
Inheritance
AR
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