This ENU induced mutation is a point mutation in exon 7: an A-to-G nucleotide change at position 1903. This causes a threonine-to-alanine amino acid change at residue 635 in the highly conserved S4/S5 linker region. (J:148340)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count