ENU mutagenesis induced a T to G substitution leading to a Met72 to Arg change in the DNA binding region of the alpha 1 helix of the HMG domain of Sox17. qRT-PCR and immunoprecipitation confirmed protein expression in adult liver. (J:219119)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count