| Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. | |
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MedLine Citation:
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PMID: 8033209 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 designed a knockout model for the fragile X syndrome in mice. The knockout mice lack normal Fmr1 protein and show macroorchidism, learning deficits, and hyperactivity. Consequently, this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation. |
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Authors:
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Cell Volume: 78 ISSN: 0092-8674 ISO Abbreviation: Cell Publication Date: 1994 Jul |
Date Detail:
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Created Date: 1994-08-17 Completed Date: 1994-08-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0413066 Medline TA: Cell Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 23-33 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Base Sequence Behavior, Animal Brain / pathology Disease Models, Animal* Female Fertility Fragile X Mental Retardation Protein Fragile X Syndrome* / genetics, metabolism, pathology, psychology Humans Male Mental Processes Mice Mice, Knockout Molecular Sequence Data Nerve Tissue Proteins / genetics*, physiology Organ Size Phenotype Purkinje Cells / pathology Pyramidal Cells / pathology RNA-Binding Proteins* Testis / pathology |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Fmr1 protein, mouse; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
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