450 bp of this gene encompassing exon 4 and part of exon 5 were replaced with a neo cassette via homologous recombination resulting in a shift in the reading frame and predicted protein truncation after the first 64 residues. Homozygous mutant ES cells were identified by Southern blot analysis and Western blot analysis confirmed the absence of protein product. (J:41941, J:44361)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
--
35

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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