The gene was disrupted by homologous recombination of exons 1-3 with a neomycin resistance cassette resulting in deletion of the hydratase and dehydrogenase activites of the protein. Absence of gene expression in liver of homozygous mutant animals was demonstrated by Northern and Western blot analysis. Hydratase activity was undetectable in liver homogenates from homozygous mutants. (J:62314)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
5
19

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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