The incorporation of an engineered point mutation in exon 13 created a glycine to alanine substitution at codon 674 (G674A), within the conserved ATPase domain of the C-terminal. A floxed neo-PGK-hygro cassette that was included in the targeting vector was removed by cre-mediated recombination leaving a single loxP site and the G674A mutation. Western blot analysis of homozygous mutant MEFs indicated expression of the mutant protein at wild-type levels. (J:88092)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
17
4

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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