| Primary Identifier | MGI:3530914 | Allele Type | Spontaneous |
| Gene | Atp5f1a | Inheritance Mode | Dominant |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Spontaneous mutation arising on the C57BL/6 allele cis to the ApcMin allele confers resistance to intestinal polyp development compared to DBA/2J. A four base-pair duplication occurs in the coding region in exon 3. This causes a frameshift leading to the predicted aberrant incorporation of 42 amino acids in the protein product and a stop codon in exon 4. Real-time PCR analysis demonstrates significantly reduced levels of Atp5a1 mRNA in intestines of heterozygous mutant mice, and sequencing of the cDNAs detects none derived from mutant transcripts. |
