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The molecular lesion is a C-to-A point mutation (c.1290C>A) that changes a tyrosine codon to a stop codon (p.Y430*) in exon 15. This mutation arose spontaneously in an unirradiated stock at the MRC Radiobiology Unit at Harwell in 1967. RT-PCR indicates expression of the mRNA was reduced 5.7-fold compared to that of the wild-type mRNA in MEFs. (J:216284)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
