A part of exon 5 of the gene was deleted and replaced by a neomycin cassette. This deletion left 49 and 30 amino acids in the N and C termini, respectively. Northern blot analysis on RNA derived from cerebral cortex showed that no detectable transcript is expressed from this allele. (J:17123)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Intragenic deletion
Recessive
1
2
148

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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