The transgene comprises the human genomic PAC clone RP3-340H11, whose 175 kb insertion contains the overlapping genes pleiomorphic adenoma gene-like 1 (PLAGL1; also called ZAC) and hydatidiform mole associated and imprinted (non-protein coding) (HYMAI) which reside within the ~355 kb transient neonatal diabetes mellitis 1 (TNDM1) minimal interval. Southern blot analysis suggests hemizygous transgenic mice carry 5-10 copies of the PAC. Semiquantitative RT-PCR detects human PLAGL1 mRNA in multiple tissues of 2-8 day old transgenic mice; higher human/mouse transcript ratios occur when transgene inheritance is paternal than when maternal. Human HYMAI mRNA is detected in brain, pituitary, pancreas and adrenal gland of 2-8 day old transgenic mice with primers amplifying exon 2. In situ hybridization with antisense riboprobes demonstrates expression of both human PLAGL1 and HYMAI in 14.5 dpc transgenic embryos, particularly in the nervous and endocrine systems, liver, muscle and tongue, and of PLAGL1 in gut epithelium. In pancreas of 2-8 day old mice, while mouse Plagl1 and Hymai mRNAs are expressed only in exocrine cells, transcripts of both human orthologs also are expressed in the islets; islet expression continues into adulthood. (J:91709)
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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
基因表达
相关疾病
参考文献
(C57BL/6J x CBA/Ca)F2
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Insertion
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1
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1

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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