ENU-induced G to A transition at base pair 54,294,187 on chromosome 11 in the Genbank genomic region NC_000077.5. The mutation is within the donor splice site in intron 5, one nucleotide after exon 5 (out of 18 total exons). Western blot analysis detected a larger than normal protein product. (J:234285)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count