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Exons 4, 5, 6, and 7 were deleted by homologous recombination of neo cassette. The targeted region encoded amino acids 137 through 376 of the C-terminal. Mutant transcript consisting of exons 1 and 2 spliced to the neo cassette was detected by RT-PCR analysis. Immunotstaining revealed that mutant protein was produced and that it localized to the cytosol of round spermatids in contrast to the wild-type protein which predominantly localizes to the nucleus. (J:85175)
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
