The gene was disrupted by insertion of a floxed PGK-neo cassette into exon 30 via homologous recombination. The mutant allele generates a transcript that skips exon 30 and that codes for a peptide that contains 32 novel residues and is 174 amino acids shorter than the wild-type peptide. (J:58295)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count