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Radiation induced Allele Detail
Symbol: Atp7aMo-dp
Name: ATPase, Cu++ transporting, alpha polypeptide; dappled
MGI ID: MGI:1856099
Synonyms: Modp
Gene: Atp7a  Location: ChrX:106027276-106124926 bp, + strand  Genetic Position: ChrX, 47.36 cM
Strain of Origin:  Not Specified
Allele Type:    Radiation induced
Mutation:    Intragenic deletion
Mutation detailsFine-mapping of the breakpoints and sequencing of the junction fragment indicate that the deletion begins at 103,220,541 bp and ends at 103,229,530 bp (NCBI37/mm9) and is 8990 bp, where 2074 bp are in the promoter, 104 bp in exon 1, and 6812 in intron 1. Western blot of heterozygous females confirmed decreased protein expression. (J:17492, J:17493, J:41599, J:69983, J:220263)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 12 assay results
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Atp7a Mutation:  88 strains or lines available
Atp7aMo-dp, dappled, semidominant. This allele arose in a low-dosage gamma-irradiation experiment. Heterozygous females are similar in color and curliness of vibrissae to Atp7aMo/+ females. Some have clubbing of the forefeet at birth or, at weaning, a tendency to walk on the dorsal surfaces of the hindfeet. With age, calcified lumps may appear in the region of the periosteum of the thoracic and lumbar vertebrae. Hemizygous males die at about 17 days of gestation. They show bending and thickening of the ribs and distortion of the pectoral and pelvic girdles and limb bones (J:12943). About 10 per cent of Atp7aMo-dp/+ females show lesions of the aorta. No homozygous females have been produced, but dappled-blotchy (Atp7aMo-dp/Atp7aMo-blo) females live to about 15 days of age while Atp7aMo-dp/Atp7aMo-to females die in utero (J:12963). The effect of Atp7aMo-dp on pigmentation, in contrast to that of Atp7aMo-blo and Atp7aMo-br, is expressed in a different cell population from Eda and in the same cell population as pink-eyed dilution (p), i.e. melanocytes (J:5238). Evidence from chimeras shows that Atp7aMo-dp acts independently in melanocytes and hair follicles (J:5295). The dappled mutation is a small deletion in Atp7a; neither mRNAs nor the enzyme gene product is expressed (J:17492, J:34477, J:17493). The deletion must be quite small, however; there is no evidence of mutation in three loci mapping within 2 cM of the Atp7a locus in Atp7aMo-dp mice, nor in another radiation-induced mutation (Atp7aMo-10H), nor in four spontaneous mutations (Atp7aMo-blo, Atp7aMo-br, Atp7aMo-vbr, Atp7aMo-13H)(J:5777).
Original:  J:64266 Phillips RJS, Atp7a - dappled. Mouse News Lett. 1956;15:28
All:  17 reference(s)

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