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 12 of the gene; an A-to-G point mutation at position 1357 of the cDNA is predicted to alter codon 453 in the encoded protein from a threonine 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