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 G-to-T nonsense mutation (NM_001160378.1:c.469G>T) within the gene, leading to a premature stop codon after 156 amino acids of the encoded protein (NP_001153850.1:p.Glu157*). (J:230816)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count