这个自发的C到G突变(在反向基因链上;chrX:163979223G>C在正向链上),将Proline的密码子308替换为Alanine的密码子(p.P308A)。它存在于AKR/J、BALB/cJ、BALB/cByJ、MOLF/EiJ、PWK/PhJ、RF/J、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