This mutation was identified as an insertion of a thymidine residue in exon 14. The insertion causes a frameshift that results in a premature stop codon 78 bp downstream of the insertion. Antibodies to both extracellular and intracellular epitopes failed to stain epithelium of homozygous mutant mice, suggesting that any protein that may be synthesized is not inserted into the plasma membrane and/or is rapidly degraded. (J:40804)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Insertion
Recessive
1
1
5

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

References Literature

Title
PMID
Journal
Year
IF
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