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The E14.1 ES cell line harbors a spontaneous mutation in this gene. It is not present in the parental 129P2/OlaHsd strain from which the E14.1 ES line is derived. A deletion of 22 nt in exon III results in a frameshift, thereby creating a new in-frame stop codon 63 nt downstream of the original stop codon. Western blot analysis on mutant duodenum lysates confirmed that no detectable protein is expressed from this allele. (J:111779)
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
