Glutamic acid codon 350 (GAG) in exon 12 was changed to glutamine (CAG) (p.E350Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.E354Q mutation (SNP rs1800437) associated with a lower body mass index (BMI) and increased risk for type 2 diabetes (T2D). (J:342957)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Single point
--
1
--
1

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

References Literature

Title
PMID
Journal
Year
IF
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