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Article

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

Investigative ophthalmology & visual science - 1 Jun 2017

Solheim Marie H, Clermont Allen C, Winnay Jonathon N, Hallstensen Erlend, Molven Anders, Njølstad Pål R, Rødahl Eyvind, Kahn C Ronald

Abstract excerpt

Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α...

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Identifiers

PMID: 28632845
DOI: 10.1167/iovs.16-21347
PMCID: PMC5482242

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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