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Article

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.

Behavioural brain research - 1 Aug 2012

Schneider Tomasz, Skitt Zara, Liu Yiwen, Deacon Robert M J, Flint Jonathan, Karmiloff-Smith Annette, Rawlins J Nick P, Tassabehji May

Abstract excerpt

Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by a hemizygous deletion of around 28 genes on the long arm of chromosome 7 (7q11.23), characterized by a unique spectrum of behavioral impairments, including mental retardation, deficits in visuospatial constructive cognition, hypersociability, anxiety and simple phobias. Physical characteristics include dysmorphic faces, short stature, oculomotor...

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Identifiers

PMID: 22652393
DOI: 10.1016/j.bbr.2012.05.014

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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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Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.PMID 22652393Read ↗

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionSemantic proximity Read ↗

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Semantic proximity Read ↗

Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.Semantic proximity Read ↗

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Semantic proximity Read ↗

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.Semantic proximity Read ↗

Extensive characterization of a Williams Syndrome murine model shows <i>Gtf2ird1</i> -mediated rescue of select sensorimotor tasks, but no effect on enhanced social behaviorSemantic proximity Read ↗

Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.Semantic proximity Read ↗

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Semantic proximity Read ↗

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.Semantic proximity Read ↗

Essential role of the N-terminal region of TFII-I in viability and behavior.Semantic proximity Read ↗

Contrasting behavioral and physiological effects of <i>Gtf2i</i> duplication and deletion in mouse models of the 7q11.23 Duplication and Williams-Beuren SyndromesSemantic proximity Read ↗

Functions of <i>Gtf2i</i> and <i>Gtf2ird1</i> in the developing brain: transcription, DNA-binding, and long term behavioral consequencesSemantic proximity Read ↗

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