Atp7a^Mo-spot

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Species

Mus musculus

Symbol

Atp7a^Mo-spot

Category

allele

Allele of gene

Atp7a

Transgenic Constructs

None

Synonyms

None

Description

This is a spontaneous mutation that arose at the Clinical Research Centre. The molecular mutation is a small genomic deletion that removes exons 11-14. RT-PCR and sequencing analysis demonstrated that a shorter transcript that spliced exon 10 to exon 15 was expressed. This in-frame mutant transcript is prediced to encode a protein lacking the majority of the small cytoplasmic loop including a phosphatase motif and the fifth transmembrane domain.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations