{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:36:07Z","timestamp":1791297367897,"version":"4.1.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Waved with open eyelids 2 (<jats:italic>woe2<\/jats:italic>) 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 <jats:italic>woe2<\/jats:italic> mice and to identify the gene harboring the mutation responsible for the <jats:italic>woe2<\/jats:italic> phenotype.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Histological analysis of <jats:italic>woe2<\/jats:italic> embryos identified the failure of embryonic eyelid closure. Clinical and histological analysis of <jats:italic>woe2<\/jats:italic> 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<jats:italic>:<\/jats:italic> skin, teeth, and nails--as well as lacrimal, mammary, salivary, sebaceous and sweat glands. No obvious morphological differences between WT and <jats:italic>woe2<\/jats:italic> mice were identified in these tissues. However, the analysis of <jats:italic>woe2<\/jats:italic> identified cardiac abnormalities. Positional cloning of the <jats:italic>woe2<\/jats:italic> locus identified a 1308\u2009bp deletion in the <jats:italic>Ppp1r13l<\/jats:italic> gene. The deletion resulted in an aberrant <jats:italic>Ppp1r13l<\/jats:italic>\n              <jats:sup>\n                <jats:italic>\u0394exon9-11<\/jats:italic>\n              <\/jats:sup> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>The <jats:italic>woe2<\/jats:italic> mouse harbors a novel deletion within the <jats:italic>Ppp1r13l<\/jats:italic> 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 <jats:italic>woe2<\/jats:italic> mice are a useful model for investigation of the role of PPP1R13L, especially during ocular and eyelid development.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2156-13-76","type":"journal-article","created":{"date-parts":[[2012,8,28]],"date-time":"2012-08-28T12:14:34Z","timestamp":1346156074000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l)gene"],"prefix":"10.1186","volume":"13","author":[{"given":"Joseph","family":"Toonen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duska J","family":"Sidjanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,8,28]]},"reference":[{"issue":"Pt 1","key":"1023_CR1","first-page":"121","volume":"183","author":"GS Findlater","year":"1993","unstructured":"Findlater GS, McDougall RD, Kaufman MH: Eyelid development, fusion and subsequent reopening in the mouse. 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