The gene was disrupted by an in-frame insertion of a lacZ-neo cassette into the 3' end of exon 2, which is the common splice acceptor site for several upstream exons. RNase protection assay using a cDNA probe showed the absence the exon 2-4 splice product in brains of homozygous mutants, but an alternative splice product upstream of exon 3 was increased. Western blot of brain extracts from homozygous mutants showed an absence of the 75 kDa and 90 kDa products, presence of the 200 kDa product, and an increase in the 55 kDa product. (J:70590)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv-Gpi1c
Targeted
Insertion
--
1
1
3

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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