The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
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DOI：
10.1073/pnas.93.24.13870
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发表时间：
1996-11-26
影响因子：
11.1
通讯作者：
Schughart, K
中科院分区：
文献类型：
--
作者：
Favor, J;Sandulache, R;Schughart, K
我们描述了一种新的小鼠移码突变(Pax2(1Neu))，该突变在Pax2基因中插入了1个碱基对，该突变与先前在患有肾缺损综合征的人类家族中描述的突变相同[Sanyanusin，P.，McNoe，L.A.，Sullivan，M.J.，Weaver，R.G.&Eccle，M.R.(1995)Hum。摩尔。吉内。4,2183-2184]，杂合突变小鼠的眼睛的肾脏、视神经和视网膜层出现缺陷，在纯合子突变胚胎中，视神经、后肾和内耳腹侧区域的发育受到严重影响。此外，我们在纯合子突变胚胎中观察到小脑和中脑后部的缺失，表明与Pax5突变相反，Pax2基因功能的丧失单独导致中后脑区域的早期丧失，中脑的表型类似于Wnt1和EN1突变类型，这表明脊椎动物和果蝇之间的基因调控网络是保守的。
We describe a new mouse frameshift mutation (Pax2(1Neu)) with a 1-bp insertion in the Pax2 gene, This mutation is identical to a previously described mutation in a human family with renal-coloboma syndrome [Sanyanusin, P., McNoe, L. A., Sullivan, M. J., Weaver, R. G. & Eccles, M. R. (1995) Hum. Mol. Genet. 4, 2183-2184], Heterozygous mutant mice exhibit defects in the kidney, the optic nerve, and retinal layer of the eye, and in homozygous mutant embryos, development of the optic nerve, metanephric kidney, and ventral regions of the inner ear is severely affected, In addition, we observe a deletion of the cerebellum and the posterior mesencephalon in homozygous mutant embryos demonstrating that, in contrast to mutations in Pax5, which is also expressed early in the mid-hindbrain region, loss of Pax2 gene function alone results in the early loss of the mid-hindbrain region, The mid-hindbrain phenotype is similar to Wnt1 and En1 mutant phenotypes, suggesting the conservation of gene regulatory networks between vertebrates and Drosophila.