Exon 2 was disrupted with an IRES-beta-geo cassette, creating a stop codon 25 amino acids after the translation initiation site. Northen and Western blot analysis on brains from homozygotes demonstrated complete absence of gene expression. (J:124940)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count