|Synonym(s)||ASP, As, agouti, agouti signal protein|
|Chromosomal Location||154,791,402-155,051,012 bp (+)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Agouti acts in the hair follicles, primarily affecting the relative amount and distribution of yellow pigment (phaeomelanin) and black pigment (eumelanin) in hairs of the coat. Some alleles show lethal effects or are associated with obesity. [provided by MGI curators]
|Amino Acid Change|
|Institutional Source||Beutler Lab|
Ensembl: ENSMUSP00000105319 (fasta)
|Gene Model||not available|
|Meta Mutation Damage Score||Not available|
|Is this an essential gene?||Probably nonessential (E-score: 0.178)|
|Candidate Explorer Status||CE: no linkage results|
Linkage Analysis Data
|Alleles Listed at MGI|
|Mode of Inheritance||Unknown|
|Last Updated||2021-10-06 11:53 AM by Diantha La Vine|
The index garfield mouse is a female that arose within the stock of the MCMV-susceptible aki strain. The mouse has a brownish coat color (instead of black) and lighter pigmentation ventrally (Figure 1).
|Nature of Mutation|
The coat color phenotype of garfield mice strongly suggested a mutation of agouti; this has not been verified by complementation testing and the nature of the mutation is not known.
|Illustration of Mutations in
Gene & Protein
The agouti (a; alternatively, nonagouti) gene encodes the 131-amino acid secreted agouti signaling protein (ASP) (Figure 2). ASP functions in pigment type switching in melanocytes by inhibiting the function of the melanocortin 1 receptor (MC1R), subsequently promoting the production of pheomelanin (red/yellow pigment).
For more information about a, please see the record yellowbelly.
The garfield mice exhibit a similar phenotype to the tanoid mouse (atd ; MGI:1855942), with flecked brown dorsal hair and abnormal (tan) ventral coat pigmentation (1). The belly color phenotype of the atd mouse is similar to the black and tan model (at; MGI:1855941); most a expression in the at mouse is controlled by regulatory elements that direct ventral expression of a. We predict that the garfield mutation permits ventral-specific expression of a, but that dorsal expression normally regulated by a hair cycle-specific promoter is moderately impaired, resulting in residual a expression to give brown hair.
|Primers||Primers cannot be located by automatic search.|
|Science Writers||Anne Murray|
|Authors||Celine Eidenschenk, Bruce Beutler|