This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. Missense mutation in exon 4 of the gene, a T-to-C point mutation at position 626 of the cDNA is predicted to alter codon 208 in the encoded protein from a valine to an alanine. (J:183993)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count