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Atp7aMo-to
Spontaneous Allele Detail
Summary
Symbol: Atp7aMo-to
Name: ATPase, copper transporting, alpha polypeptide; tortoiseshell
MGI ID: MGI:1856101
Gene: Atp7a  Location: ChrX:105070882-105168532 bp, + strand  Genetic Position: ChrX, 47.36 cM
Alliance: Atp7aMo-to page
Atp7aMo-to/Atp7a+

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  obese stock
Mutation
description
Allele Type:    Spontaneous
Mutation:    Undefined
    A spontaneous mutation that arose at The Jackson Laboratory in 1952.
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Atp7a Mutation:  69 strains or lines available
Notes
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.
References
Original:  J:24988 Dickie MM, The Tortoise Shell House Mouse. J Hered. 1954;45(4):158-90
All:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory