This spontaneous mutation has a T-to-A transversion at chromosome 2:76,639,197 (GRCm38) in intron 5 immediately adjacent to the conserved splice donor site. (J:176116, J:222308, J:223062)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count