The candidate gene Osr1 is the closest gene to the breakpoint in the T(12;17)4Rk translocation and likely the affected gene. However, sequencing did not reveal any lesions in the coding or non-coding sequence. In situ hybridization confirmed reduced transcript expression in the intermediate mesoderm of E9.5 embryos. (J:226961)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count