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EN
ENU mutagenesis created a C>T point mutation in exon 6, changing arginine codon CGA to stop codon TGA (p.Arg284Stop or p.R284*) in the highly conserved second coiled-coil domain. Western blot analysis showed the expression of a truncated peptide from this allele and qRT-PCR showed a significant reduction of mRNA expression from the allele in testes. (J:244081)
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
