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The molecular lesion is an A-to-G substitution in codon 86 within exon3, resulting in the substitution of tyrosine (TAC) to cysteine (TGC) in the encoded protein. qPCR analysis of mRNA transcript levels in whole testis homogenates revealed no difference between homozygous mutant mice and wild-type controls. However, Western blot analysis of the 46 kDa isoform in whole testis homogenates revealed that protein expression is reduced to 41% of wild-type levels. (J:250115)
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
