This allele comprises a deletion of at least 28.2 kb including exon 5 and the polyadenylation signal. Analyses of mutant mice indicated truncated transcript expressed at levels lower than those of wild-type. Endogenous protein was undetected in homozygous mutant mice, however the potential for a mutant protein not detected by the antiserum remained. (J:23331)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count