这个自发的G到A突变(在反向基因链上;chrX:161842605C>T在正向链上),将Valine的密码子583替换为Isoleucine的密码子(p.V583I)。它存在于BALB/cJ、BALB/cByJ、CAST/EiJ、LEWES/EiJ、MOLF/EiJ、PWK/PhJ、SEA/GnJ、SPRET/EiJ和WSB/EiJ这些品种中。(来源:J:294207)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count