A spontaneous mutation originally identified in 3H1 consists of a C to T point mutation in exon 11 (c.5167C>T) that results in a in-frame termination (p.R1723*). (J:242825)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count