| Primary Identifier | MGI:3588774 | Allele Type | Spontaneous |
| Gene | Atp7a | Inheritance Mode | Dominant |
| Strain of Origin | mixed | Is Recombinase | false |
| Is Wild Type | false |
| description | This mutation arose spontaneously in an outbred strain at Tohoku University involving three inbred strains: C57BL/6, C3H/He, and AA (J:105797). |
| molecularNote | A 1440-bp deletion occurred between intron 22 and exon 23. As a result, the donor site of exon 22 and the 4 following bases are retained in the mRNA. This includes a premature stop codon. The resulting mRNA is 500 bases shorter than normal and 91 amino acids are deleted from the protein product. Only two cytosolic amino acid residues past the eighth transmembrane domain are translated. Crossing to mice carrying a wild-type cDNA transgene confirmed the identity of this spontaneous mutation. |
