ENU-induced T to C transition at base pair 56,271,339 (v38) on chromosome 17, or base pair 5,429 in the GenBank genomic region NC_000083 encoding the Ticam1 gene. The mutation corresponds to residue 953 in the mRNA sequence NM_174989 within exon 2 of 2 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 252 (I252T) in the protein. (J:234240)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count