A neomycin cassette was inserted into the first coding exon of the gene which contains 5' untranslated sequence and the sequence for the first 31 amino acids. A lack of protein from the cerebellum of homozygous mutant animals was demonstrated by Western analysis. Additional binding studies and Ca2+ release assays were incorporated to demonstrate the loss of function for this allele. (J:30633)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count