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A nonsense mutation in exon 7 (c.1041C>A) changes codon 347 from a tyrosine codon to a stop codon (p.Tyr347Ter). Through qRT-PCR it was determined that transcription from this allele is severely reduced to less than 0.1% of wild-type. Translation products were undetectable through Western blots. (J:241028)
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
