This mutation, discovered among G3 progeny of an ENU treated mouse, comprises a G to T transversion at nucleotide position 25214 (Genbank genomic region NC_000081 for linear genomic DNA sequence of Slc45a2) that disrupts the donor splice site of intron 6. It is predicted to result in production of a protein truncated near the end of the eighth (of 12) transmembrane domain. (J:156310)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count