This ENU induced mutation has been identified as an A-to-G transition in exon 3, at nucleotide position 380 of the cDNA sequence (transcript Med28-001; ENSMUST00000156481), resulting in replacement of glutamic acid by glycine at amino acid position 93 of the protein (E93K). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count