The gene was disrupted by replacing the majority of exon 6 (encoding amino acids 410-507) with a neomycin resistance cassette. Homozygous mutant animals lacked enzyme activity as determined by assay of hepatic lysates. Northern blot anlaysis of homozygous animals showed expression of mutant RNA species of larger size compared to wild-type, presumably from abnormal splicing of the gene product. Western blot analysis using polyclonal antibodies recognizing amino acids 266-281 did not detect protein product in liver homogenates from homozygous mutant animals. (J:62587)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Intragenic deletion
--
1
5
13

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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