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CRISPR/Cas9 technology generated a C to T change at position 613 (c.613C>T) resulting in a glutamine to a premature stop codon at residue 241 (p.Gln241*) which is predicted to generate a truncated product of amino acids 1 to 240. This corresponds to chr7:g.140358157G>A (c.727C>T and p.Q243*) on genome build GRCm39. This is a mutation seen in premature ovarian failure in humans. (J:314193)
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
