The gene was disrupted at codon 370 by insertion of a neomycin resistance cassette into exon 3 via homologous recombination. Absence of gene expression in homozygous mutant animals was demonstrated by Northern blot analysis of liver, spleen, and brain tissues using the full cDNA sequence as a probe. No enzyme activity was detectable in total protein extracts of liver, spleen, and brain from homozygous mutants. (J:26748)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
8
7

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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