The gene trap vector inserted into intron 27. The expression of a truncated protein product, missing the 267 amino C-terminal amino acids, was confirmed by western blot analysis. Reduced enzymatic activity was confirmed in the liver and kidney. (J:169710)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Gene trapped
Insertion of gene trap vector
--
1
1
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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