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CRISPR/Cas9 technology generated a G to A change resulting in an arginine to histidine substitution at amino acid 209 (R209H) in exon 6. Western blot analysis shows no difference in levels of protein expression in heterozygotes compared with wild-type mice. The R209H mutations is one of the most common mutations found in GNAO1 encephalopathies. (J:303229)
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
