This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G-to-A single point mutation at position 73104029, exon 8, nucleotide 1013 of the cDNA that is predicted to convert G-to-D at position 338 of the encoded protein (exon8:c.G1013A:p.G338D, NM_011048).The mutant phenotype is attributed to a mutation in the Pcsk6 gene. (J:175213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count