This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 240 (c.240+1G>A) in intron 4. This changes splice donor site A-GT to A-AT (which is assumed to be inactive). (J:175213, J:216862)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count