Yellow coat color in mice is linked to a lethal genetic mutation
The lethal yellow (Ay) mutation in mice produces a yellow coat color in heterozygotes while being embryonically lethal in homozygotes, a well-documented genetic link established through molecular cloning of the agouti locus.
Multiple genetic and molecular studies spanning decades confirm that the lethal yellow (Ay) mutation at the mouse agouti locus simultaneously results in a yellow coat color and lethality (embryonic death when homozygous, alongside dominant pleiotropic effects in heterozygotes). The retrieved papers consistently support this relationship without any conflicting evidence.
M W Miller, D M Duhl, H Vrieling, S P Cordes, M M Ollmann, B M Winkes, G S Barsh. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation.. 1993. https://doi.org/10.1101/gad.7.3.454
Explains that the lethal yellow (Ay) mutation causes the exclusive production of yellow pigment and pleiotropic effects including lethality.
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Levi Carroll, Joanne Voisey, Angela van Daal. Mouse models of obesity.. 2004. https://doi.org/10.1016/j.clindermatol.2004.01.004
Notes that the agouti mouse mutation results in obese, yellow mice, and the lethal yellow mutation is a classic genetic model.
G S Barsh, M Lovett, C J Epstein. Effects of the lethal yellow (Ay) mutation in mouse aggregation chimeras.. 1990. https://doi.org/10.1242/dev.109.3.683
States that the Ay allele is a recessive lethal mutation at the mouse agouti locus and results in a yellow coat color in heterozygotes.
D M Duhl, M E Stevens, H Vrieling, P J Saxon, M W Miller, C J Epstein, G S Barsh. Pleiotropic effects of the mouse lethal yellow (Ay) mutation explained by deletion of a maternally expressed gene and the simultaneous production of agouti fusion RNAs.. 1994. https://doi.org/10.1242/dev.120.6.1695
Demonstrates that heterozygosity for the lethal yellow mutation leads to yellow coat color and pleiotropic effects, while homozygosity is embryonic lethal.
L D Siracusa. The agouti gene: turned on to yellow.. 1994. https://doi.org/10.1016/0168-9525(94)90112-0
Summarizes that mutations at the murine agouti locus affect coat color as well as leading to embryonic lethality.
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