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CRISPR/Cas9 technology targeting exon 2 generated a 31 bp deletion, c.102_132del, resulting in a frameshift mutation that is predicted to cause a premature translational termination (p.Ala35Serfs*13). Western blot analysis confirmed absence of protein in homozygous whole testis lysates. (J:333286)
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
