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CRISPR/Cas9 technology generated a CG to TC change at position 410-411 (c.410_411delCGinsTT) resulting in a serine to phenylalanine substitution at amino acid 137 (S137F). In addition, a synonymous AAG to AAA p.K95 mutation and CAG to GAA p.E373 mutation were introduced to avoid gRNA recognition and excision. S137F is a variant identified in a family with female infertility. (J:336445)
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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References Literature
Title
PMID
Journal
Year
IF
