| Primary Identifier | MGI:2387468 | Allele Type | Spontaneous |
| Attribute String | Null/knockout | Gene | Atp7a |
| Inheritance Mode | Semidominant | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
