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Background  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.    Results  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  Ppp1r13l   Δexon9-11   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.    Conclusions  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.

bmc genomic data

Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l)gene