This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. An A-to-G point mutation at position 815 of the cDNA is predicted to alter codon 272 in the encoded protein from a tyrosine to a cysteine residue. (J:183993)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count