The gene was disrupted by insertion of a neo cassette into exon 6 via homologous recombination resulting in a premature stop codon and protein truncation. Enzyme assays of brain and liver extracts from mutant mice demonstrated background levels of enzyme activity. Western blot and immunohistochemical analyses failed to detect protein product. (J:43648)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/Sv
Targeted
Insertion
--
1
--
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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