CRISPR/Cas9 technology generated a 76 bp deletion in exon 9 resulting in a C-terminal truncated protein (p.Ser445Argfs*3). This truncation mutation eliminates TESMINs interaction with LIN9 and consequently leads to cytoplasmic retention of TESMIN in pachytene spermatocytes. Western blot analysis confirmed the presence of truncated protein in the testes of homozygous mutant males. (J:324057)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
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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