This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1291Clo. The molecular lesion is a T to A substitution at coding nucleotide 1120 in exon 11 of the cDNA (c.1120T>A, NM_177861). This changes the tyrosine residue to asparagine at position 374 of the encoded protein (p.Y374N). (J:175213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count