CRISPR/Cas9 technology targeting the TPR2 domain generated a 200 bp deletion removing the entire exon 7. RT-PCR analysis confirmed the deletion of exon 7 in mRNA from adult testis of homozygotes. Western blot analysis confirmed the expression of the mutant protein but at a reduced level in homozygous testes. (J:345392)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/N
Endonuclease-mediated
Intragenic deletion
--
1
--
1

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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