The high growth mutation is a spontaneous deletion of 486,178 bp on Chr 10 with breakpoints in the second introns of suppressor of cytokine signaling 2 (Socs2) and plexin C1 (Plxnc1). It entirely eliminates Cradd (CASP2 and RIPK1 domain containing adaptor with death domain)/Raidd and results in generation of an 8.5 kb fusion transcript that joins the first two exons of Socs2 to the third exon of Plxnc1, which contains at least 20 exons. Of tissues analyzed, this fusion mRNA exhibits the highest expression in brain and much lower expression in liver and heart. (J:68342, J:80771)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
AKR/J
Spontaneous
Deletion
Recessive
1
--
22

表型特征

标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
观察到的表型
N: 正常表型
(#): 上标括号内为相关疾病数量
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