Glutamic acid codon 506 (487 in mature peptide) (GAA) in exon 12 was changed to lysine (AAA) (p.E506K) and a neomycin resistance gene cassette was inserted downstream of last exon 13. The mutation is the equivalent of the human p.E504K mutation, prevalent in East Asians, associated with metabolic disorders and increased sensitivity to pain. Isoelectric focusing gel electrophoresis and Western blot confirmed the expression of the mutant protein. Protein levels and enzymatic activity in heterozygous mice are reduced. (J:215904)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Single point
--
1
2
10

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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