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CRISPR/Cas9 technology generated a 5bp deletion (c.373_377delAACTG) in exon 4, with the glutamate at position 125 as the first amino acid changed, shifting the reading frame, replacing it for a glycine and terminating at position Ter22 (p.Glu125GlyfsTer22). Western blotting and qPCR confirmed the absence of protein and reduced levels of mRNA in the testis, respectively. (J:307593)
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
