Atp5f1a^Mom2

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Species

Mus musculus

Symbol

Atp5f1a^Mom2

Category

allele

Allele of gene

Atp5f1a

Transgenic Constructs

None

Synonyms

• Atp5a1^{Mom2-C57BL/6J}
• Mom2^R

Description

Spontaneous mutation arising on the C57BL/6 allele cis to the Apc^Min 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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations