ENU-induced A to T transition at bp 195 in exon 1 (NCBI RefSeq: NM_027212). This point mutation results in the amino acid substitution of phenylalanine for isoleucine at position 44 (I44F). (J:180728)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count