The codon encoding the glutamic acid at postion 40 was mutated by a G-to-A transition to instead code for lysine (E40K). A floxed neomycin cassette was included for targeting purposes and was subsequently removed by cre recombinase expression in ES cells. Mutant gene expression in homozygote liver and kidney was similar to endogenous levels as determined by RT-PCR analysis. (J:149912)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Targeted
Nucleotide substitutions
--
1
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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