ENU-induced G to T transversion at base pair 54,372,106 (v38) on chromosome 3, or base pair 12,835 in the GenBank genomic region NC_000069 encoding Postn. The mutation corresponds to residue 1,040 in the mRNA sequence NM_015784 within exon 8 of 22 total exons. The mutation results in a cysteine to phenylalanine substitution at position 335 (C335F) in the periostin protein. (J:274733)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count