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Article

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.

Human molecular genetics - 1 Oct 2012

Yuan Elizabeth, Tsai Peter T, Greene-Colozzi Emily, Sahin Mustafa, Kwiatkowski David J, Malinowska Izabela A

Abstract excerpt

Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with prominent brain manifestations due to mutations in either TSC1 or TSC2. Here, we describe novel mouse brain models of TSC generated using conditional hypomorphic and null alleles of Tsc2 combined with the neuron-specific synapsin I cre (SynIcre) allele. This allelic series of homozygous conditional hypomorphic alleles...

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Source

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Identifiers

PMID: 22752306
DOI: 10.1093/hmg/dds262
PMCID: PMC3441124

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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