A T to G nucleotide substitution was introduced into exon 6 at nucleotide 943 by homologous recombination. This point mutation causes the substitution of the active site serine 238 within the catalytic histidine-aspartate-serine triad with alanine (S238A) and renders it catalytically inactive. In addition, a loxP flanked neomycin cassette under the control of the 3-phosphoglycerate kinase promoter was inserted upstream of the substitution. The neomycin cassette was removed via Cre-mediated recombination by mating with Tg(EIIa-cre)C5379Lmgd transgenic mice. RT-PCR indicates that the introduction of the point mutation and the loxP site in intron 5 do not affect mRNA expression. Western blot analysis shows that protein is expressed at levels similar to wild-type and the presence of a faster migrating species in the kidney and lung. (J:214122)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
--
3

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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