Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene.
Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene.
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DOI：
10.1186/1471-2156-13-76
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发表时间：
2012-08-28
期刊：
影响因子：
2.9
通讯作者：
Sidjanin DJ
中科院分区：
文献类型：
--
作者：
Toonen J;Liang L;Sidjanin DJ
Waveed with open眼睑2（woe 2）是一种新的常染色体隐性遗传小鼠突变，在我们的动物设施中自发出现。在初始评估时，突变小鼠表现出出生时眼睑张开（EOB）和波浪状皮毛表型。本研究的目的是描述woe 2小鼠的表型特征，并鉴定携带导致woe 2表型突变的基因。woe 2胚胎的组织学分析鉴定了胚胎眼睑闭合失败。临床和组织学分析woe 2成人眼睛确定了严重的角膜混浊，眼前段的异常，并没有睑板腺。由于被毛质地粗糙和睑板腺的缺失，我们不得不评估其他表皮附属物：皮肤、牙齿和指甲，以及泪腺、乳腺、唾液腺、皮脂腺和汗腺。WT和woe 2小鼠在这些组织中未发现明显的形态学差异。然而，对woe 2的分析确定了心脏异常。定位克隆的woe 2位点确定了一个1308 bp的缺失Ppp 1 r13 l基因。该缺失导致Ppp 1 r13 l Δ外显子9 -11转录物缺失外显子9、10和11，从而导致推定突变PPP 1 R13 L蛋白的C末端提前终止和223个氨基酸的缺失。眼发育过程中的免疫组织学分析鉴定了PPP 1 R13 L在眼睑表皮、眼睑和球结膜、角膜上皮和睑板腺中的表达。woe 2小鼠在Ppp 1 r13 l基因内存在一种新的缺失，可能导致PPP 1 R13 L功能完全丧失。这项研究的结果提供了证据，证明PPP 1 R13 L在胚胎眼睑闭合以及睑板腺和眼前段的发育中发挥着重要作用。woe 2小鼠是研究PPP 1 R13 L作用的有用模型，特别是在眼和眼睑发育期间。
Waved with open eyelids 2 (woe2) is a novel autosomal recessive mouse mutation that arose spontaneously in our animal facility. Upon initial evaluation, mutant mice exhibited eyelids open at birth (EOB) and wavy fur phenotypes. The goals of this study were to phenotypically characterize the woe2 mice and to identify the gene harboring the mutation responsible for the woe2 phenotype. Histological analysis of woe2 embryos identified the failure of embryonic eyelid closure. Clinical and histological analysis of woe2 adult eyes identified severe corneal opacities, abnormalities of the anterior segment of the eye, and the absence of meibomian glands. Abnormalities in the fur texture and the absence of meibomian glands prompted us to evaluate other epidermal appendages: skin, teeth, and nails--as well as lacrimal, mammary, salivary, sebaceous and sweat glands. No obvious morphological differences between WT and woe2 mice were identified in these tissues. However, the analysis of woe2 identified cardiac abnormalities. Positional cloning of the woe2 locus identified a 1308 bp deletion in the Ppp1r13l gene. The deletion resulted in an aberrant Ppp1r13lΔexon9-11 transcript that lacks exons 9, 10 and 11 resulting in a premature stop and a loss of 223 amino acids from the C-terminal end of the putative mutant PPP1R13L protein. Immunohistological analysis during eye development identified expression of PPP1R13L in the palpebral epidermis, palpebral and bulbar conjunctiva, corneal epithelium and meibomian glands. The woe2 mouse harbors a novel deletion within the Ppp1r13l gene, likely resulting in a complete loss of PPP1R13L function. Results from this study provide evidence that PPP1R13L has an essential role in embryonic eyelid closure as well in development of meibomian glands and the anterior segment of the eye. The woe2 mice are a useful model for investigation of the role of PPP1R13L, especially during ocular and eyelid development.
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影响因子：
64.8
作者：
MIETTINEN, PJ;BERGER, JE;DERYNCK, R
通讯作者：
DERYNCK, R
DOI：
10.1007/s00417-004-0868-0
发表时间：
2004-06-01
影响因子：
2.7
作者：
Kaercher, T
通讯作者：
Kaercher, T
影响因子：
4.4
作者：
Horiuchi, Keisuke;Kimura, Tokuhiro;Blobel, Carl P.
通讯作者：
Blobel, Carl P.
影响因子：
64.5
作者：
MANN, GB;FOWLER, KJ;DUNN, AR
通讯作者：
DUNN, AR
DOI：
10.1073/pnas.1102292108
发表时间：
2011-10-04
影响因子：
11.1
作者：
Notari, Mario;Hu, Ying;Lu, Xin
通讯作者：
Lu, Xin