ENU mutagenesis induced an A to T transversion in exon 7 at nucleotide 1127 (NCBI GenBank no. NM_183354) that results in the amino acid substitution of phenylalamine for isoleucine at position 299 (I299F). This mutation is located at the first position of the fourth transmembrane-spanning domain. (J:159994)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count