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A missense mutation of <i>Ip3r1</i> in <i>Dp2</i> mice leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles

2018-11-08

Abstract excerpt

<h4>ABSTRACT</h4> Ip3r1 encodes an inositol 1,4,5-triphosphate-responsive calcium channel. Mutations in the Ip3r1 gene in humans may cause Gillespie syndrome (GS) typically presents as fixed dilated pupils in affected infants, which was referred to as iris hypoplasia. However, there is no report of mice with Ip3r1 heterozygous mutations showing dilated pupils. Here, we report a new Ip3r1 allele (dilated pupil...

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Literature Corpus work
94f1791f-0571-5ea6-b421-fa33a68498b1
DOI
10.1101/465591
Open publication

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A missense mutation of <i>Ip3r1</i> in <i>Dp2</i> mice leads to short-term mydriasis and unfolded protein response in the iris constrictor musclesDOI 10.1101/465591
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