Log In|Sign Up
EN
ENU-mutagenesis induced a G to A substitution at position c.1118 in exon 5 predicted to produce a premature stop codon in place of a tryptophan at amino acid 373 (W373X). Quantitative real-time PCR shows a 50% reduction in mRNA expression and Western blot analysis of liver lysates confirmed a similar loss of protein in heterozygotes. (J:244493)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
