Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk]
It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation being studied. Over the past few years, studie...
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| Format: | Article |
| Language: | English |
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F1000 Research Ltd
2013-12-01
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| Series: | F1000Research |
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| Online Access: | http://f1000research.com/articles/2-287/v1 |
| _version_ | 1811208799739969536 |
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| author | Michael R. Hunsaker |
| author_facet | Michael R. Hunsaker |
| author_sort | Michael R. Hunsaker |
| collection | DOAJ |
| description | It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation being studied. Over the past few years, studies evaluating the effects of the polymorphic CGG trinucleotide repeat on the FMR1 gene underlying Fragile X-Associated Disorders have reported preliminary evidence for a behavioral endophenotype in human Fragile X Premutation carrier populations as well as the CGG knock-in (KI) mouse model. More recently, the behavioral experiments used to test the CGG KI mouse model have been extended to the Fmr1 knock-out (KO) mouse model. When combined, these data provide compelling evidence for a clear neurocognitive endophenotype in the mouse models of Fragile X-Associated Disorders such that behavioral deficits scale predictably with genetic dosage. Similarly, it appears that the CGG KI mouse effectively models the histopathology in Fragile X-Associated Disorders across CGG repeats well into the full mutation range, resulting in a reliable histopathological endophenotype. These endophenotypes may influence future research directions into treatment strategies for not only Fragile X Syndrome, but also the Fragile X Premutation and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). |
| first_indexed | 2024-04-12T04:28:55Z |
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| id | doaj.art-599e218c1cb3469ea4d7cf6326f3cf5d |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-04-12T04:28:55Z |
| publishDate | 2013-12-01 |
| publisher | F1000 Research Ltd |
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| spelling | doaj.art-599e218c1cb3469ea4d7cf6326f3cf5d2022-12-22T03:48:00ZengF1000 Research LtdF1000Research2046-14022013-12-01210.12688/f1000research.2-287.v13404Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk]Michael R. Hunsaker0Scientific Computing and Imaging Institute, University of Utah, Salt Lake City, UT, USAIt has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation being studied. Over the past few years, studies evaluating the effects of the polymorphic CGG trinucleotide repeat on the FMR1 gene underlying Fragile X-Associated Disorders have reported preliminary evidence for a behavioral endophenotype in human Fragile X Premutation carrier populations as well as the CGG knock-in (KI) mouse model. More recently, the behavioral experiments used to test the CGG KI mouse model have been extended to the Fmr1 knock-out (KO) mouse model. When combined, these data provide compelling evidence for a clear neurocognitive endophenotype in the mouse models of Fragile X-Associated Disorders such that behavioral deficits scale predictably with genetic dosage. Similarly, it appears that the CGG KI mouse effectively models the histopathology in Fragile X-Associated Disorders across CGG repeats well into the full mutation range, resulting in a reliable histopathological endophenotype. These endophenotypes may influence future research directions into treatment strategies for not only Fragile X Syndrome, but also the Fragile X Premutation and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).http://f1000research.com/articles/2-287/v1Animal GeneticsBehavioral NeuroscienceCognitive NeuroscienceMotor Systems |
| spellingShingle | Michael R. Hunsaker Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] F1000Research Animal Genetics Behavioral Neuroscience Cognitive Neuroscience Motor Systems |
| title | Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] |
| title_full | Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] |
| title_fullStr | Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] |
| title_full_unstemmed | Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] |
| title_short | Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk] |
| title_sort | neurocognitive endophenotypes in cgg ki and fmr1 ko mouse models of fragile x associated disorders an analysis of the state of the field v1 ref status indexed http f1000r es 2mk |
| topic | Animal Genetics Behavioral Neuroscience Cognitive Neuroscience Motor Systems |
| url | http://f1000research.com/articles/2-287/v1 |
| work_keys_str_mv | AT michaelrhunsaker neurocognitiveendophenotypesincggkiandfmr1komousemodelsoffragilexassociateddisordersananalysisofthestateofthefieldv1refstatusindexedhttpf1000res2mk |