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An G-to-A mutation at 46,222,615 bp of chromosome 11 (GRCm38) occurred between 1961 and 1974 in the C57BL/6N strain that resulted in the amino acid substitution of serine with phenylalanine at position 968 (p.S968F). This mutation is found in all C57BL/6N substrains (C57BL/6NCrl, C57BL/6NTac and C57BL/6NJ) but is not present in the C57BL/6J strain or substrains (C57BL/6Ei, C57BL/6EiJ, C57BL/6ByJ and C57BL/6By). The mutation destabilizes the protein leading to decreased half-life. (J:203183)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
