Generation of mice encoding a conditional null allele of Gcm2.
Generation of mice encoding a conditional null allele of Gcm2.
复制标题
DOI：
10.1007/s11248-014-9799-7
复制
发表时间：
2014-08
影响因子：
3
通讯作者：
Levine, Michael A.
中科院分区：
文献类型：
--
作者：
Yuan, Ziqiang;Opas, Evan E.;Vrikshajanani, Chakravarthy;Libutti, Steven K.;Levine, Michael A.
Glial cells missing homolog 2 （GCM2）是一种转录因子，主要在咽袋中表达，后期在发育和成熟的甲状旁腺中表达。在人类中，GCM2功能的丧失，无论是通过人类GCM2基因的隐性失形突变还是显性抑制剂突变，都会导致孤立性甲状旁腺功能低下。在小鼠中，常规基因靶向对Gcm2的纯合子破坏导致甲状旁腺发育不全和甲状旁腺功能减退。在这项研究中，我们报道了编码Gcm2条件空等位基因的小鼠的产生和功能表征。我们证明了条件Gcm2等位基因的功能完整性，并报告了使用Cre重组酶成功地在体内删除了外显子2。条件缺失Gcm2的小鼠表现出与传统Gcm2基因敲除小鼠相似的表型，包括围产期死亡率、低钙血症、血清甲状旁腺激素（PTH）水平低或检测不到，以及甲状旁腺缺失。Gcm2条件突变等位基因的产生为研究Gcm2的时空特异性作用以及了解Gcm2蛋白的出生后活性提供了宝贵的资源。
Glial cells missing homolog 2 (GCM2) is a transcription factor that is expressed predominately in the pharyngeal pouches and, at later stages, in the developing and mature parathyroid glands. In humans, loss of GCM2 function, either through recessive apomorphic mutations or dominant inhibitor mutations in the human GCM2 gene, leads to isolated hypoparathyroidism. In mice, homozygous disruption of Gcm2 by conventional gene targeting results in parathyroid aplasia and hypoparathyroidism. In this study, we report the generation and functional characterization of mice encoding a conditional null allele of Gcm2. We demonstrate the functional integrity of the conditional Gcm2 allele and report successful in vivo deletion of exon 2 using Cre recombinase. The mice with conditional deletion of Gcm2 displayed phenotypes similar to those previously described for a conventional Gcm2 knockout, including perinatal lethality, hypocalemia, low or undetectable serum levels of parathyroid hormone (PTH), and absent parathyroid glands. The production of a conditional mutant allele for Gcm2 represents a valuable resource for the study of the temporal- and spatial-specific roles for Gcm2, and for understanding the postnatal activities of GCM2 protein.
登录
查看更多内容
影响因子：
15.9
作者：
Ding, CL;Buckingham, B;Levine, MA
通讯作者：
Levine, MA
影响因子：
5.8
作者：
Mirczuk, Samantha M.;Bowl, Michael R.;Thakker, Rajesh V.
通讯作者：
Thakker, Rajesh V.
DOI：
10.1073/pnas.95.21.12364
发表时间：
1998-10-13
影响因子：
11.1
作者：
Kim, JS;Jones, BW;Anderson, DJ
通讯作者：
Anderson, DJ
影响因子：
11.4
作者：
Cohen, SX;Moulin, M;Müller, CW
通讯作者：
Müller, CW
影响因子：
15.9
作者：
Grigorieva, Irina V.;Mirczuk, Samantha;Thakker, Rajesh V.
通讯作者：
Thakker, Rajesh V.