A neomycin resistance gene cassette replaced 42 kb of sequence encompassing 23 kb upstream of the gene and Snrpn exons 1-6. Unintentionally, the neo gene and several kb of flanking endogenous sequence (from upstream of Snrpn) was amplified four-fold at the insertion site. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. The deleted upstream sequence includes Prader-Willi syndrome imprinting center PWS-IC Rr346 and Angelman syndrome imprinting center AS-IC Rr70. (J:47318, J:61887, J:69578)
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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
129S/Sv
Targeted
Insertion, Intragenic deletion
--
1
6
17

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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
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N: 正常表型
(#): 上标括号内为相关疾病数量
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