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Article

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium.

Cell - 15 Jul 1994

Abstract excerpt

Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region. The absence of FMR1 protein leads to mental retardation, aberrant behavior, and macroorchidism. Hardly anything is known about the physiological function of FMR1 and the pathological mechanisms leading to these symptoms. Therefore, we...

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Identifiers

PMID: 8033209

Genes

FMR1

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Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium.PMID 8033209Read ↗

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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.Semantic proximity Read ↗

Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae.Semantic proximity Read ↗

Understanding the biological underpinnings of fragile X syndrome.Semantic proximity Read ↗

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.Semantic proximity Read ↗

Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins.Semantic proximity Read ↗

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