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Article

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

Proceedings of the National Academy of Sciences of the United States of America - 4 Dec 2007

Davis Roger E, Swiderski Ruth E, Rahmouni Kamal, Nishimura Darryl Y, Mullins Robert F, Agassandian Khristofor, Philp Alisdair R, Searby Charles C, Andrews Michael P, Thompson Stewart, Berry Christopher J, Thedens Daniel R, Yang Baoli, Weiss Robert M, Cassell Martin D, Stone Edwin M, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accou...

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Source

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Identifiers

PMID: 18032602
DOI: 10.1073/pnas.0708571104
PMCID: PMC2148305

Genes

BBS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18032602-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.PMID 18032602Read ↗

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