CRISPR/Cas9-mediated genome editing generated a 101bp deletion in exon 1 leading to a frameshift that results in nonsense transcripts with a premature stop codon after amino acid 23. Western blot analysis of basic nuclear proteins isolated from epididymal sperm confirmed the absence of detectable mature protein in homozygous mutant males. (J:243626)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA)F2
Endonuclease-mediated
Intragenic deletion
--
1
--
2

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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