The targeting construct was designed to replace the entire endogenous coding region with the human sequence following by a neomycin (neo) resistance cassette. A missense mutation was introduced in exon 3, corresponding with human codon 158, resulting in the Val158Met mutation commonly associated with schizophrenia and other psychiatric disorders. Western blot analysis confirmed the absence of protein expression in the hippocampus and cortex. (J:224284)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Intragenic deletion
--
1
4
2

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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