ENSMUSG00000000838


Mus musculus

Features
Gene ID: ENSMUSG00000000838
  
Biological name :Fmr1
  
Synonyms : Fmr1 / fragile X mental retardation 1
  
Possible biological names infered from orthology : Q06787
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.1
Gene start: 68678541
Gene end: 68717963
  
Corresponding Affymetrix probe sets: 10599893 (MoGene1.0st)   1423369_at (Mouse Genome 430 2.0 Array)   1426086_a_at (Mouse Genome 430 2.0 Array)   1450885_at (Mouse Genome 430 2.0 Array)   1452550_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000085906
Ensembl peptide - ENSMUSP00000110305
Ensembl peptide - ENSMUSP00000110304
Ensembl peptide - ENSMUSP00000110303
Ensembl peptide - ENSMUSP00000110302
Ensembl peptide - ENSMUSP00000110301
NCBI entrez gene - 14265     See in Manteia.
MGI - MGI:95564
RefSeq - XM_006527814
RefSeq - NM_001290424
RefSeq - NM_008031
RefSeq - XM_006527810
RefSeq - XM_006527811
RefSeq - XM_006527813
RefSeq Peptide - NP_032057
RefSeq Peptide - NP_001277353
swissprot - E9QAS8
swissprot - D3Z6U8
swissprot - E9QAT0
swissprot - E9QNF5
swissprot - Q6AXB7
swissprot - E9QAS9
Ensembl - ENSMUSG00000000838
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fmr1ENSDARG00000037433Danio rerio
 FMR1ENSGALG00000009177Gallus gallus
 FMR1ENSG00000102081Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fxr1 / Q61584 / Fragile X mental retardation syndrome-related protein 1 / P51114* / FMR1 autosomal homolog 1*ENSMUSG0000002768055
Fxr2 / FMR1 autosomal homolog 2 / P51116*ENSMUSG0000001876550


Protein motifs (from Interpro)
Interpro ID Name
 IPR004087  K Homology domain
 IPR004088  K Homology domain, type 1
 IPR008395  Agenet-like domain
 IPR022034  Fragile X-related 1 protein, C-terminal core
 IPR032196  Fragile X-related mental retardation protein, C-terminal region 2
 IPR036612  K Homology domain, type 1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA
 biological_processGO:0002092 positive regulation of receptor internalization IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0017148 negative regulation of translation IEA
 biological_processGO:0033129 positive regulation of histone phosphorylation IEA
 biological_processGO:0044830 modulation by host of viral RNA genome replication IEA
 biological_processGO:0045727 positive regulation of translation IEA
 biological_processGO:0051489 regulation of filopodium assembly IEA
 biological_processGO:0060964 regulation of gene silencing by miRNA IEA
 biological_processGO:0060998 regulation of dendritic spine development IEA
 biological_processGO:0098586 cellular response to virus IEA
 biological_processGO:0098908 regulation of neuronal action potential IEA
 biological_processGO:1901254 positive regulation of intracellular transport of viral material IEA
 biological_processGO:1902373 negative regulation of mRNA catabolic process IEA
 biological_processGO:1902416 positive regulation of mRNA binding IEA
 biological_processGO:2000637 positive regulation of gene silencing by miRNA IEA
 biological_processGO:2001022 positive regulation of response to DNA damage stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005844 polysome IEA
 cellular_componentGO:0019034 viral replication complex IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0032797 SMN complex IEA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:1990124 messenger ribonucleoprotein complex IEA
 cellular_componentGO:1990904 ribonucleoprotein complex IEA
 molecular_functionGO:0002151 G-quadruplex RNA binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IEA
 molecular_functionGO:0008266 poly(U) RNA binding IEA
 molecular_functionGO:0030371 translation repressor activity IEA
 molecular_functionGO:0031369 translation initiation factor binding IEA
 molecular_functionGO:0033592 RNA strand annealing activity IEA
 molecular_functionGO:0034046 poly(G) binding IEA
 molecular_functionGO:0035064 methylated histone binding IEA
 molecular_functionGO:0035197 siRNA binding IEA
 molecular_functionGO:0035198 miRNA binding IEA
 molecular_functionGO:0035613 RNA stem-loop binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043022 ribosome binding IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0048027 mRNA 5"-UTR binding IEA
 molecular_functionGO:1990825 sequence-specific mRNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Fmr1tm1Cidz/Fmr1tm1Cidz,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001126 abnormal ovary morphology "malformed female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0001127 small ovary "reduced size of the female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0001148 enlarged testes "increased size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:63229]
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Allelic Composition: Ikbkgm1Btlr/Y
Genetic Background: C57BL/6J-Ikbkgm1Btlr

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001353 increased aggression to other mice "when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Webster s II New College Dictionary:ISBN 0-395-70869-9]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Scn1atm1.1Aesc/Scn1atm1.1Aesc,Scn8amed-jo/Scn8a+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001361 social withdrawal "mice remain physically distant, do not sleep in piles with cagemates" [J:57125]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2(FVB)-Fmr1tm1Cgr

 MP:0001362 abnormal anxiety-related response "altered emotional response related to anticipation of a non-specific threat" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Hrhr/Hrhr,Tg(KRT14-Ptgs2)1Sumf/0
Genetic Background: involves: C57BL/6 * DBA/2 * FVB/N * SKH1

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001364 decreased anxiety-related response "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]
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Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: FVB.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2(FVB)-Fmr1tm1Cgr

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr,Rgs4tm1Dgen/Rgs4tm1Dgen
Genetic Background: B6.129P2-Rgs4tm1Dgen Fmr1tm1Cgr

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fmr1tm2Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001409 increased stereotypic behavior "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, MGI:CLS, J:57125]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

 MP:0001441 increased grooming behavior "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Adgra2tm1.2Bstc/Adgra2tm1.2Bstc
Genetic Background: B6.Cg-Adgra2tm1.2Bstc

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Genetic Background: involves: 129S1/Sv

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB/NJ

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001469 abnormal contextual conditioning "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), or the environmental context in this case)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001473 reduced long term potentiation "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Egfrwa2-4J/Egfrwa2-4J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001486 abnormal startle reflex "abberant threshold or reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Genetic Background: involves: 129S1/Sv

 MP:0001488 increased startle reflex "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2(B6)-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: either: FVB.129P2(B6)-Fmr1tm1Cgr/J or FVB;129P2(B6)-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0001496 audiogenic seizures "a reflex seizure triggered by loud noises" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Cgr/Y,Grm5tm1Rod/Grm5+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: either: FVB.129P2(B6)-Fmr1tm1Cgr/J or FVB;129P2(B6)-Fmr1tm1Cgr/J

 MP:0001529 abnormal vocalization "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:85479]
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Allelic Composition: Pum1tm1.2Hfl/Pum1tm1.2Hfl,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB

 MP:0001898 abnormal long term depression "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Fmr1tm1Cidz/Fmr1tm1Cidz,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

 MP:0001973 increased thermal nociceptive threshold "a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: B6.129-Fmr1tm1Rbd

 MP:0002016 ovarian cysts "cystic ovary; usually refers to a benign growth" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0002062 abnormal conditioning behavior "inability to change the frequency or form of a behavior as a result of the influence of the environment " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Egfrwa2-4J/Egfrwa2-4J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0002063 abnormal learning/memory/conditioning "altered ability to receive, store or recall informational stimuli" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Genetic Background: involves: 129S1/Sv

Allelic Composition: Fmr1tm2Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Genetic Background: involves: 129S1/Sv

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Grin2atm1.1Ppao/Grin2atm1.1Ppao
Genetic Background: involves: 129 * C57BL/6

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr,Rgs4tm1Dgen/Rgs4tm1Dgen
Genetic Background: B6.129P2-Rgs4tm1Dgen Fmr1tm1Cgr

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0002680 decreased number of corpora lutea "fewer than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrus cycle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0002761 abnormal hippocampal mossy fiber morphology "absence or misprojection of axons of neuronal cells in the dentate gyrus" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:4978]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002807 abnormal eye blink conditioning behavior "defects in the ability of an animal to learn to blink in anticipation of an aversive stimulus (e.g., an airpuff to the eyelid) following repeated pairings with a neutral stimulus (e.g., a tone); such learning is only adaptive if the animal is able to learn the precise timing between the conditioned and unconditioned stimuli " [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Fmr1tm1Cidz/Fmr1tm1Cidz,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd

 MP:0003008 enhanced long term potentiation "greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, J:81922]
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Allelic Composition: Grin2atm1.1Ppao/Grin2atm1.1Ppao
Genetic Background: involves: 129 * C57BL/6

 MP:0003107 abnormal response to novelty "alteration in amount of exploration/investigation of a novel object, situation or environment" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003477 abnormal nerve fiber response "anomaly in the electrophysiological recordings from a single or several nerve fiber(s)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB

 MP:0003863 decreased aggression towards mice "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004000 impaired passive avoidance behavior "decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004191 neuronal intranuclear inclusions "presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington s disease" [acv:Alicia Valenzuela_Genetic Resources Curator]
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Allelic Composition: Bcl2l11tm1.1Ast/Bcl2l11tm1.1Ast
Genetic Background: involves: 129S1/Sv

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2atm1.1Ppao/Grin2atm1.1Ppao
Genetic Background: involves: 129 * C57BL/6

 MP:0004833 ovary atrophy "wasting of the ovary due to injury or disease resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0004851 increased testis weight "greater average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Cgr/Y,Grm5tm1Rod/Grm5+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Rbd/Y
Genetic Background: FVB.129-Fmr1tm1Rbd

Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr,Rgs4tm1Dgen/Rgs4tm1Dgen
Genetic Background: B6.129P2-Rgs4tm1Dgen Fmr1tm1Cgr

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * FVB/NJ

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fmr1tm2Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB

 MP:0004948 abnormal neuronal precursor proliferation "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

 MP:0005168 abnormal female meiosis "malfunction in the process of nuclear division that results in ova with one half the normal chromosome number of the original cell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0006361 abnormal female germ cell morphology "any structural anomaly female germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008868 abnormal granulosa cell morphology "any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle" [MESH:A.05.360.319.114.630.535.200]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0008871 abnormal ovarian follicle number "abnormal numbers of spheroid cell aggregations in the ovary" [MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0009141 increased prepulse inhibition "increase in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: either: FVB.129P2(B6)-Fmr1tm1Cgr/J or FVB;129P2(B6)-Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr/Nwu

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0009363 abnormal secondary ovarian follicle morphology "any structural abnormality in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0009372 abnormal cumulus oophorus "atypical formation of or inability to produce a mass of epithelial granulosa cells around the oocyte in the maturing Graafian follicle; the cumulus oophorus begins to expand dramatically when cumulus cells are induced to synthesize hyaluronic acid which aggregates in a viscous intercellular matrix" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn4qv/Sptbn4qv
Genetic Background: Not Specified

 MP:0009456 impaired cued conditioning behavior "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Egfrwa2-4J/Egfrwa2-4J
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0009712 impaired conditioned place preference behavior "decrease in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey-H
Genetic Background: involves: 101/H * C3H/HeH * C57BL/10

Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Fmr1tm1Usdn/Y
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Cyfip2tm1(KOMP)Vlcg/Cyfip2+,Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pou3f1tm1Rsd/Pou3f1tm1Rsd
Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6J

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2atm1.1Ppao/Grin2atm1.1Ppao
Genetic Background: involves: 129 * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Fmr1tm2Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB

 MP:0011737 hypodipsia "abnormally diminished thirst with a consequential reduction of fluid intake; often related to dysfunction of the thirst osmoreceptor in the anterior hypothalamus" [MGI:anna]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0020467 abnormal circadian behavior "any anomaly in the specific behavior of an organism that recurs with a regularity of approximately 24 hours" [GO:0048512]
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Allelic Composition: Fmr1tm1Cgr/Y
Genetic Background: B6.129P2-Fmr1tm1Cgr

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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