This ENU-induced A to G point substitution at coding position 653 results in the replacement of aspartic acid with glycine at amino acid 212, which is a highly conserved residue in the T-Box DNA binding domain. (J:278988)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count