This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. This mutation is a nonsense mutation in exon 2 of the gene; an A-to-T point mutation at position 148 of the cDNA is predicted to alter codon 50 in the encoded protein from a lysine to a stop codon. (J:183993)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count