This spontaneous mutation was discovered in 1998 at The Jackson Laboratory. The molecular lesion is a small intragenic deletion of TTCACAC at 39,023,425-431 (GRCm38) in the gene. This causes a frame shift and premature termination. (J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count