A neomycin resistance cassette replaced an ~8kb segment of the gene, comprising 2.5kb of the putative promoter, the first exon containing the ATG translational start codon, and genomic sequences containing ~50% of the coding region of the gene. Northern and Western blots of brain tissue from homozygous mutant mice showed no detectable transcript and protein, respectively. (J:65196)
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