This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. Nonsense mutation in exon 7 of the gene, a C-to-T point mutation at position 2017 of the cDNA is predicted to alter codon 673 in the encoded protein from a glutamine 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