CRIPSR/Cas9 genome editing created a 5 bp deletion as well as an insertion of four A residues in exon 6. This results in a frameshift after the 134th codon in the longest open reading frame, and is predicted to severely truncate the encoded protein. Immunoprecipitation-Western blot analysis of testis extracts and immunofluorescence in fixed gonadal samples confirmed that domains that are C-terminal to the frameshift position are not produced in homozygous mutant meiocytes. (J:276412)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
Insertion, 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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