ENU induced a C-to-T transversion at nucleotide 265 (at 108757107 bp in Chr5, GRCm38.p2) creating a premature stop codon in the coiled-coil domain of the gene. Western blot analysis confirmed the absence of protein expression in testes from homozygous mice. (J:219664)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
2

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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