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CRISPR-targeting of exon 2 deleted 8 bp within the intron with the indel -7871 bp, +5 bp between intron 2 and exon 5 to produce a frameshift mutation with a premature stop codon at the 70th amino acid. Western blot analysis confirmed the absence of protein expression in testicular giant cells and spermatozoa. (J:293874)
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
