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Spontaneous Allele Detail
Symbol: Atp7aMo-blo
Name: ATPase, Cu++ transporting, alpha polypeptide; blotchy
MGI ID: MGI:1856097
Synonyms: ATP7Amut, Blo, Moblo
Gene: Atp7a  Location: ChrX:105070882-105168532 bp, + strand  Genetic Position: ChrX, 47.36 cM
Alliance: Atp7aMo-blo page
Strain of Origin:  Not Specified
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made. (J:17492, J:17493, J:23118, J:38977)
Inheritance:    Semidominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 10 assay results
In Structures Affected by this Mutation: 19 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Atp7a Mutation:  69 strains or lines available
Original:  J:189 Russell LB, Recombination, Blo-Ta. Mouse News Lett. 1960;23:58
All:  39 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
MGI 6.23
The Jackson Laboratory