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. (J:73854, J:122207)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Insertion
Dominant
1
5
4

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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