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CRISPR/Cas9 technology generated a 7 bp deletion (c.1926_1932delTGATTGG) in exon 20 resulting in a truncating mutation at the cysteine in position 642 (C642*). RT-PCR showed absence of the expected 235-bp product in homozygotes. (J:281464)
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
