Exon 8 of this gene was replaced with an IRES-lacZneo cassette. The targeting vector introduced stop codons in all 3 reading frames and results in protein truncation after the TM2 region. Beta-gal staining was positive in the cerebellar granule layer of homozygous mutant animals. Absence of gene expression was confirmed by immunocytochemistry of the cerebellar granule layer and Western blot of cerebellar protein extracts. (J:75896)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv-Gpi1c
Targeted
Insertion, Intragenic deletion
--
1
--
8

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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