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CRISPR/Cas9 technology generated a G to T change a position 1456, resulting in an aspartate to tyrosine substitution at residue 486 (p.D486Y) in exon 16 which is equivalent to the human p.D487Y mutation identified in two sisters with primary ovarian insufficiency. (J:241778)
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
