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ENU induced a missense mutation in exon 3 that results in the amino acid substitution of lysine for glutamine in the DUF domain. An additional nonsense mutation in exon 28 results in a protein truncation after amino acid 1320. The absence of full-length protein was confirmed by western blot analysis on testis extracts. (J:176695)
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
