ENU mutagenesis induced a T to C transversion at bp 64291 in intron 29, within the donor splice site, 2 nucleotides after exon 29 of the Prkdc mRNA (NCBI RefSeq: NM_011159.2). The point mutation results in the amino acid substitution of isoleucine to threonine at position 1010 (I1010T). (J:178522)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count