--- abstract: "Fragile X Syndrome is the most common form of\r\ninherited mental retardation. It is also known for having\r\na substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\r\ncaused by inactivation of the X-linked FMR1 gene. A\r\nsingle knockout mouse model, fmr1-tm1Cgr, exists. In\r\nthis report we further characterize the cognitive and\r\nbehavioral phenotype of the fmr1-tm1Cgr Fragile X\r\nmouse through the use of F1 hybrid mice derived from\r\ntwo inbred strains (FVB/NJ and C57BL/6J). Use of F1\r\nhybrids allows focus on the effects of the fmr1-tm1Cgr\r\nallele with reduced influence from recessive alleles\r\npresent in the parental inbred strains. We find that the\r\ncognitive phenotype of fmr1-tm1Cgr mice, including\r\nmeasures of working memory and learning set formation\r\nthat are known to be seriously impacted in humans with\r\nFragile X Syndrome, are essentially normal. Further testing of inbred strains supports this conclusion. Thus, any\r\nfmr1-tm1Cgr cognitive deficit is surprisingly mild or\r\nabsent. There is, however, clear support presented for a\r\nrobust audiogenic seizure phenotype in all strains tested,\r\nas well as increased entries into the center of an open\r\nfield. Finally, a molecular examination of the fmr1-tm1Cgr\r\nmouse shows that, contrary to common belief, it is not a\r\nmolecular null. Implications of this finding for interpretation of the phenotype are discussed.\r\n" altloc: - 'doi: 10.1111/j.1601-183X.2004.00087.x' chapter: ~ commentary: ~ commref: ~ confdates: ~ conference: ~ confloc: ~ contact_email: ~ creators_id: - rpb3@columbia.edu creators_name: - family: Bauchwitz given: Robert P. honourific: Dr. lineage: '' date: 2004-05-10 date_type: published datestamp: 2009-06-10 08:01:22 department: ~ dir: disk0/00/00/65/39 edit_lock_since: ~ edit_lock_until: ~ edit_lock_user: ~ editors_id: [] editors_name: [] eprint_status: archive eprintid: 6539 fileinfo: /style/images/fileicons/application_pdf.png;/6539/1/Yan2004_G2B_offprint.pdf full_text_status: public importid: ~ institution: ~ isbn: ~ ispublished: pub issn: ~ item_issues_comment: [] item_issues_count: 0 item_issues_description: [] item_issues_id: [] item_issues_reported_by: [] item_issues_resolved_by: [] item_issues_status: [] item_issues_timestamp: [] item_issues_type: [] keywords: "audiogenic seizure, Barnes maze, Fmr1 RNA,\r\nFragile X, hybrid mouse strain, Morris water maze,\r\nolfactory sequence learning, open field, radial maze,\r\nworking memory" lastmod: 2011-03-11 08:57:22 latitude: ~ longitude: ~ metadata_visibility: show note: ~ number: ~ pagerange: 337-359 pubdom: TRUE publication: 'Genes, Brain and Behavior' publisher: 'Blackwell Munksgaard ' refereed: TRUE referencetext: ~ relation_type: [] relation_uri: [] reportno: ~ rev_number: 21 series: ~ source: ~ status_changed: 2009-06-10 08:01:22 subjects: - behav-neuro-sci succeeds: ~ suggestions: ~ sword_depositor: ~ sword_slug: ~ thesistype: ~ title: A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse type: journalp userid: 4550 volume: 3