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CRISPR/Cas9 mutagenesis was used with a gRNA and a donor oligonucleotide to create a C to T mutation (c.274C>T) that changes arginine codon 92 into an tryptophan codon (p.R92W). This mutation mimics a mutation found in patients with 46,XX testicular/ovotesticular disorders of sex development (DSD). (J:277036)
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
