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CRISRP/Cas9 technology generated CCG to TCG change resulting in a proline to serine substitution at amino acid 193 (p.P193S). A second silent C to T mutation was also introduced to cause a loss of an Eagl restriction site for screening. The p.P193S is a rare loss of function variant identified in an individual with severe obesity. (J:339803)
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
