Exon 2, which encodes amino acids 24-95, and some flanking intronic DNA have been replaced by a neomycin resistance cassette, generating a translational reading-frame shift. Immunoblot analysis with antibodies against the N-terminal, extracellular part of the protein demonstrated its absence in synoptosomes of homozygous mutant mice. (J:115214)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
Recessive
1
4
1

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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