The molecular lesion is a T to C transition at base pair 34,327,140 (v38) on chromosome 19 or base pair 36,482 in the GenBank genomic region NC_000085 encoding Fas. The mutation site corresponds to nucleotide 856 in the mRNA sequence NM_007987, within exon 9 of 9 total exons. Transcript variant 2 (NM_001146708) is not affected by the cherry mutation. The mutation results in a valine (V) to alanine (A) substitution at amino acid position 267 (V267A) in the Fas protein. (J:216052)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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