The gene was disrupted by replacement of a 3 kb region encoding exons 8-10 with a PGK-hprt cassette (in the reverse orientation) via homologous recombination. The gene targeting event does not disrupt transcription initiation and mutant transcripts were detected by RT-PCR in homozygous mutant animals. Western blot analysis using antibodies directed against the C-terminus of the protein failed to detect protein product in the cerebellum of homozygous mutants. (J:76862)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
--
20

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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