Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Fmr1 | Rat | autistic disorder | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21681106 more ... | Fmr1 | Rat | autosomal hemophilia A | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | Fmr1 | Rat | factor VIII deficiency | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | Fmr1 | Rat | fragile X syndrome | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fragile X syndrome | ClinVar | PMID:11445641 more ... | Fmr1 | Rat | fragile X-associated tremor/ataxia syndrome | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | Fmr1 | Rat | genetic disease | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10448821 more ... | Fmr1 | Rat | intellectual disability | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25167861 and PMID:25741868 | Fmr1 | Rat | primary ovarian insufficiency | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar | PMID:25741868 | Fmr1 | Rat | primary ovarian insufficiency 1 | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FMR1-Related Primary Ovarian Insufficiency | ClinVar | PMID:25741868 | Fmr1 | Rat | syndromic X-linked intellectual disability Lubs type | | ISO | FMR1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. | Antar LN, etal., Genes Brain Behav. 2005 Aug;4(6):350-9. |
| 2. | Metabotropic glutamate receptor activation regulates fragile x mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. | Antar LN, etal., J Neurosci 2004 Mar 17;24(11):2648-55. |
| 3. | Experience-dependent changes in hippocampal spatial activity and hippocampal circuit function are disrupted in a rat model of Fragile X Syndrome. | Asiminas A, etal., Mol Autism. 2022 Dec 20;13(1):49. doi: 10.1186/s13229-022-00528-z. |
| 4. | Auditory hypersensitivity and processing deficits in a rat model of fragile X syndrome. | Auerbach BD, etal., Neurobiol Dis. 2021 Dec;161:105541. doi: 10.1016/j.nbd.2021.105541. Epub 2021 Oct 29. |
| 5. | Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures. | Bernard PB, etal., Neurobiol Dis. 2013 Nov;59:1-17. doi: 10.1016/j.nbd.2013.06.013. Epub 2013 Jul 2. |
| 6. | Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome. | Berzhanskaya J, etal., Sci Rep. 2016 Jul 28;6:30769. doi: 10.1038/srep30769. |
| 7. | Long-term abstinence from developmental cocaine exposure alters Arc/Arg3.1 modulation in the rat medial prefrontal cortex. | Caffino L, etal., Neurotox Res. 2014 Oct;26(3):299-306. doi: 10.1007/s12640-014-9472-1. Epub 2014 May 9. |
| 8. | FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability. | D'Elia A, etal., Sci Rep. 2022 Dec 29;12(1):22535. doi: 10.1038/s41598-022-26986-2. |
| 9. | The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons. | Davidovic L, etal., Hum Mol Genet. 2006 May 1;15(9):1525-38. Epub 2006 Mar 28. |
| 10. | The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. | Davidovic L, etal., Hum Mol Genet. 2007 Dec 15;16(24):3047-58. Epub 2007 Sep 19. |
| 11. | Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. | De Diego Otero Y, etal., Mol Cell Biol 2002 Dec;22(23):8332-41. |
| 12. | Oxidative stress reveals heterogeneity of FMRP granules in PC12 cell neurites. | Dolzhanskaya N, etal., Brain Res. 2006 Sep 27;1112(1):56-64. Epub 2006 Aug 17. |
| 13. | Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum. | Dulman RS, etal., Alcohol Clin Exp Res. 2021 Oct;45(10):2006-2016. doi: 10.1111/acer.14691. Epub 2021 Aug 28. |
| 14. | Degraded speech sound processing in a rat model of fragile X syndrome. | Engineer CT, etal., Brain Res. 2014 May 20;1564:72-84. doi: 10.1016/j.brainres.2014.03.049. Epub 2014 Apr 5. |
| 15. | Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. | Feng Y, etal., J Neurosci. 1997 Mar 1;17(5):1539-47. |
| 16. | Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat. | Ferder I, etal., Reproduction. 2013 Apr 15;145(4):335-43. doi: 10.1530/REP-12-0305. Print 2013 Apr. |
| 17. | Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density. | Ferron L, etal., Nat Commun. 2014 Apr 7;5:3628. doi: 10.1038/ncomms4628. |
| 18. | Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein. | Gabel LA, etal., J Neurosci. 2004 Nov 24;24(47):10579-83. |
| 19. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 20. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 21. | Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. | Golden CEM, etal., Cereb Cortex. 2019 May 1;29(5):2228-2244. doi: 10.1093/cercor/bhz029. |
| 22. | Fmr1 and Nlgn3 knockout rats: novel tools for investigating autism spectrum disorders. | Hamilton SM, etal., Behav Neurosci. 2014 Apr;128(2):103-9. doi: 10.1037/a0035988. |
| 23. | Methylation-dependent gene silencing induced by interleukin 1beta via nitric oxide production. | Hmadcha A, etal., J Exp Med. 1999 Dec 6;190(11):1595-604. |
| 24. | Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. | Hoffman GE, etal., J Histochem Cytochem. 2012 Jun;60(6):439-56. doi: 10.1369/0022155412441002. Epub 2012 Apr 2. |
| 25. | Altered synaptic plasticity in a mouse model of fragile X mental retardation. | Huber KM, etal., Proc Natl Acad Sci U S A. 2002 May 28;99(11):7746-50. |
| 26. | Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation. | Irwin SA, etal., Neurobiol Learn Mem. 2000 Jul;74(1):87-93. |
| 27. | Translational regulation of NeuroD1 expression by FMRP: involvement in glutamatergic neuronal differentiation of cultured rat primary neural progenitor cells. | Jeon SJ, etal., Cell Mol Neurobiol. 2014 Mar;34(2):297-305. doi: 10.1007/s10571-013-0014-9. Epub 2013 Dec 12. |
| 28. | Positive feedback regulation of Akt-FMRP pathway protects neurons from cell death. | Jeon SJ, etal., J Neurochem. 2012 Oct;123(2):226-38. doi: 10.1111/j.1471-4159.2012.07886.x. Epub 2012 Aug 22. |
| 29. | Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets. | Kaufmann WE, etal., Microsc Res Tech. 2002 May 1;57(3):135-44. |
| 30. | Fragile X mental retardation protein shifts between polyribosomes and stress granules after neuronal injury by arsenite stress or in vivo hippocampal electrode insertion. | Kim SH, etal., J Neurosci. 2006 Mar 1;26(9):2413-8. |
| 31. | Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. | Kremer EJ, etal., Science. 1991 Jun 21;252(5013):1711-4. |
| 32. | Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome. | Leontiadis LJ, etal., Front Cell Neurosci. 2023 Dec 1;17:1296235. doi: 10.3389/fncel.2023.1296235. eCollection 2023. |
| 33. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 34. | Robust and replicable measurement for prepulse inhibition of the acoustic startle response. | Miller EA, etal., Mol Psychiatry. 2020 Mar 6. pii: 10.1038/s41380-020-0703-y. doi: 10.1038/s41380-020-0703-y. |
| 35. | Synaptotagmin 11 interacts with components of the RNA-induced silencing complex RISC in clonal pancreatic beta-cells. | Milochau A, etal., FEBS Lett. 2014 Jun 27;588(14):2217-22. doi: 10.1016/j.febslet.2014.05.031. Epub 2014 May 29. |
| 36. | Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. | Nakamoto M, etal., Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15537-42. Epub 2007 Sep 19. |
| 37. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 38. | Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function. | Ntoulas G, etal., Transl Psychiatry. 2024 Feb 20;14(1):104. doi: 10.1038/s41398-024-02815-0. |
| 39. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 40. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
| 41. | Two-stage translational control of dentate gyrus LTP consolidation is mediated by sustained BDNF-TrkB signaling to MNK. | Panja D, etal., Cell Rep. 2014 Nov 20;9(4):1430-45. doi: 10.1016/j.celrep.2014.10.016. Epub 2014 Nov 6. |
| 42. | Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome. | Parente M, etal., Int J Mol Sci. 2022 Mar 21;23(6):3408. doi: 10.3390/ijms23063408. |
| 43. | The RNA binding and transport proteins staufen and fragile X mental retardation protein are expressed by rat primary afferent neurons and localize to peripheral and central axons. | Price TJ, etal., Neuroscience. 2006 Sep 15;141(4):2107-16. Epub 2006 Jun 30. |
| 44. | GOA pipeline | RGD automated data pipeline |
| 45. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 46. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 47. | Abnormal neuronal morphology and neurochemistry in the auditory brainstem of Fmr1 knockout rats. | Ruby K, etal., Neuroscience. 2015 Sep 10;303:285-98. doi: 10.1016/j.neuroscience.2015.06.061. Epub 2015 Jul 9. |
| 48. | Loss of FMRP Impaired Hippocampal Long-Term Plasticity and Spatial Learning in Rats. | Tian Y, etal., Front Mol Neurosci. 2017 Aug 28;10:269. doi: 10.3389/fnmol.2017.00269. eCollection 2017. |
| 49. | Whisker stimulation-dependent translation of FMRP in the barrel cortex requires activation of type I metabotropic glutamate receptors. | Todd PK, etal., Brain Res Mol Brain Res. 2003 Feb 20;110(2):267-78. |
| 50. | Fragile X (fmr1) mRNA expression is differentially regulated in two adult models of activity-dependent gene expression. | Valentine G, etal., Brain Res Mol Brain Res. 2000 Feb 22;75(2):337-41. |
| 51. | Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). | Van Dam D, etal., Behav Brain Res. 2005 Jul 30;162(2):233-9. |
| 52. | Developmentally-programmed FMRP expression in oligodendrocytes: a potential role of FMRP in regulating translation in oligodendroglia progenitors. | Wang H, etal., Hum Mol Genet. 2004 Jan 1;13(1):79-89. Epub 2003 Nov 12. |
| 53. | Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. | Weiler IJ, etal., Proc Natl Acad Sci U S A. 1997 May 13;94(10):5395-400. |
| 54. | The Potential Role of PKA/CREB Signaling Pathway Concerned with Gastrodin Administration on Methamphetamine-Induced Conditioned Place Preference Rats and SH-SY5Y Cell Line. | Yang GM, etal., Neurotox Res. 2020 Apr;37(4):926-935. doi: 10.1007/s12640-019-00150-7. Epub 2020 Jan 4. |
Additional References at PubMed
| PMID:7489725 | PMID:7688265 | PMID:8156595 | PMID:9659908 | PMID:10496225 | PMID:11157796 | PMID:11376146 | PMID:11438589 | PMID:12700164 | PMID:12927206 | PMID:15121898 | PMID:15380484 |
| PMID:15381419 | PMID:15805463 | PMID:16055059 | PMID:16631377 | PMID:16790844 | PMID:17057366 | PMID:17254795 | PMID:17417632 | PMID:17850748 | PMID:18093976 | PMID:18539120 | PMID:18614030 |
| PMID:18653529 | PMID:18805096 | PMID:18936162 | PMID:19097999 | PMID:19166269 | PMID:19193898 | PMID:19946888 | PMID:20159450 | PMID:21446998 | PMID:21933836 | PMID:22022532 | PMID:22357842 |
| PMID:22658674 | PMID:22681889 | PMID:23235829 | PMID:23509247 | PMID:24204304 | PMID:24349419 | PMID:24514761 | PMID:24658146 | PMID:24813610 | PMID:25225333 | PMID:25464849 | PMID:25561520 |
| PMID:26037301 | PMID:26586091 | PMID:26627310 | PMID:27666021 | PMID:30053369 | PMID:30361391 | PMID:30969437 | PMID:31291981 | PMID:31413325 | PMID:32452512 | PMID:32788572 | PMID:33139785 |
| PMID:33407653 | PMID:34327719 | PMID:34338322 | PMID:34996816 | PMID:35436530 | PMID:35641906 | PMID:36116785 | PMID:36849416 |
Genomics
Comparative Map Data
| Fmr1 (Rattus norvegicus - Norway rat) |
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| FMR1 (Homo sapiens - human) |
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| Fmr1 (Mus musculus - house mouse) |
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| Fmr1 (Chinchilla lanigera - long-tailed chinchilla) |
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| FMR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| FMR1 (Canis lupus familiaris - dog) |
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| Fmr1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| FMR1 (Sus scrofa - pig) |
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| FMR1 (Chlorocebus sabaeus - green monkey) |
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| Fmr1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Fmr1
20 total Variants 
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