This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. The molecular lesion is a mutation in exon 4 of the gene, altering nucleotide 206 from T-to-A in codon 69, predicted to result in an amino acid change from Methionine to Lysine (M69K). (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count