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A spontaneous C-to-T mutation was identified that is a single base pair substitution in exon 4 generating a nonsense mutation in which the glutamine at amino acid 87 is mutated to a premature stop codon (Q87X) and results in a truncated protein lacking 18 amino acids at its C terminus. The mutation occurred spontaneously on a mixed background consisting of 129S6/SvEvTac, C57BL/6 and DBA/2. (J:271219)
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
