| Primary Identifier | MGI:1856101 | Allele Type | Spontaneous |
| Gene | Atp7a | Inheritance Mode | Semidominant |
| Strain of Origin | obese stock | Is Recombinase | false |
| Is Wild Type | false |
| description | Atp7aMo-to, tortoiseshell, semidominant. Arising spontaneously in an obese stock, the tortoiseshell mutation was considered to be a mottled locus allele because of its interaction with other alleles at the locus and because it shows about the same linkage relation with Zic3 (bent tail) as Atp7aMo (J:13382). Heterozygous females resemble Atp7a/+ females in color. The vibrissae are slightly wavy and the coat has a slightly silky texture. The distribution of patches of wild-type and white color is different from the distribution of patches of wild-type and wavy hair, suggesting that Atp7aMo-to probably acts independently in melanoblasts and hair follicles (J:15324). Most hemizygous males die before birth (J:24988), but a few are stillborn (J:12963). Using as parent a male presumed to be chimeric for Atp7aMo-to/Y and +/Y, Grahn et al. (J:12963) showed that homozygous Atp7aMo-to/Atp7aMo-to and heterozygous Atp7aMo-to/Atp7aMo-dp females die in utero, while heterozygous Atp7aMo-to/Atp7aMo-blo and Atp7aMo-to/Atp7aMo-br females reach term, but die by 15 days of age. The elastic lamina of the aorta is defective in stillborn hemizygous Atp7aMo-to males and in 40 per cent of Atp7aMo-to/+ female heterozygotes. |
| molecularNote | A spontaneous mutation that arose at The Jackson Laboratory in 1952. |
