Exon 2, which encodes amino acids 24-95, and some flanking intronic DNA have been replaced by a neomycin resistance cassette, generating a translational reading-frame shift.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
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count