Insertion of a neomycin resistance cassette into intron 1 and a lysine to glutamine point mutation at position 236 of exon 1 (K236Q) was introduced via homologous recombination. Western blot of brain homogenates from homozygous mutant animals verified the presence of protein expression and enzyme assays demonstrated similar phospholipid- and syntaxin-binding ability and calcium affinity compared to wild-type. (J:76452)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count