This ENU induced mutation has been identified as an A-to-G transition in exon 5, at nucleotide position 397 of the cDNA sequence (transcript Tnik-007; ENSMUST00000160307), resulting in replacement of glutamic acid by glycine at amino acid position 106 of the protein (E106G). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count