This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 328 in exon 1 of the cDNA (c.328A>G, NM_009756). This changes the asparagine residue to aspartic acid at position 110 of the encoded protein (p.N110D). (J:175213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count