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CRISPR/Cas9 technology introduced a C to T change at chr16:20,712,754 (GRCm38) resulting in an arginine to glutamine substitution at amino acid 180 (R180Q) in exon 5. The mouse R180Q is homologous to human R172Q that is commonly mutated in familial hyperaldosteronism type II. (J:282228)
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
