R451C_mouse-3neur

General

Gene Locus : mouse-3neur

Mode of mutation : Site directed mutagenesis

Disease :

Summary : Site directed mutagenesis R451C substitution in neuroligin-3 R451C mutant mice showed impaired social interactions but enhanced spatial learning abilities Tabuchi_2007_Science_318_71

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : 388

Kinetic Parameter : No kinetic parameter

News : DECEMBER-12-2007

Comment :

References (24)

Title : Faster Gastrointestinal Transit, Reduced Small Intestinal Smooth Muscle Tone and Dysmotility in the Nlgn3(R451C) Mouse Model of Autism - Hosie_2024_Int.J.Mol.Sci_25_
Author(s) : Hosie S , Abo-Shaban T , Mou K , Balasuriya GK , Mohsenipour M , Alamoudi MU , Filippone RT , Belz GT , Franks AE , Bornstein JC , Nurgali K , Hill-Yardin EL
Ref : Int J Mol Sci , 25 : , 2024
Abstract : Hosie_2024_Int.J.Mol.Sci_25_
ESTHER : Hosie_2024_Int.J.Mol.Sci_25_
PubMedSearch : Hosie_2024_Int.J.Mol.Sci_25_
PubMedID: 38255906
Gene_locus related to this paper: mouse-3neur

Title : Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation - Diamanti_2024_Traffic_25_e12930
Author(s) : Diamanti T , Trobiani L , Mautone L , Serafini F , Gioia R , Ferrucci L , Lauro C , Bianchi S , Perfetto C , Guglielmo S , Sollazzo R , Giorda E , Setini A , Ragozzino D , Miranda E , Comoletti D , Di Angelantonio S , Cacci E , De Jaco A
Ref : Traffic , 25 :e12930 , 2024
Abstract : Diamanti_2024_Traffic_25_e12930
ESTHER : Diamanti_2024_Traffic_25_e12930
PubMedSearch : Diamanti_2024_Traffic_25_e12930
PubMedID: 38272450
Gene_locus related to this paper: human-NLGN3 , mouse-3neur

Title : Mice with an autism-associated R451C mutation in neuroligin-3 show intact attention orienting but atypical responses to methylphenidate and atomoxetine in the mouse-Posner task - Li_2024_Psychopharmacology.(Berl)__
Author(s) : Li S , May C , Pang TY , Churilov L , Hannan AJ , Johnson KA , Burrows EL
Ref : Psychopharmacology (Berl) , : , 2024
Abstract : Li_2024_Psychopharmacology.(Berl)__
ESTHER : Li_2024_Psychopharmacology.(Berl)__
PubMedSearch : Li_2024_Psychopharmacology.(Berl)__
PubMedID: 38170320
Gene_locus related to this paper: human-NLGN3 , mouse-3neur

Title : Impaired cecal motility and secretion alongside expansion of gut-associated lymphoid tissue in the Nlgn3(R451C) mouse model of autism - Lee_2023_Sci.Rep_13_12687
Author(s) : Lee CYQ , Balasuriya GK , Herath M , Franks AE , Hill-Yardin EL
Ref : Sci Rep , 13 :12687 , 2023
Abstract : Lee_2023_Sci.Rep_13_12687
ESTHER : Lee_2023_Sci.Rep_13_12687
PubMedSearch : Lee_2023_Sci.Rep_13_12687
PubMedID: 37542090
Gene_locus related to this paper: mouse-3neur

Title : Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism - Wang_2022_Mol.Psychiatry__
Author(s) : Wang L , Mirabella VR , Dai R , Su X , Xu R , Jadali A , Bernabucci M , Singh I , Chen Y , Tian J , Jiang P , Kwan KY , Pak C , Liu C , Comoletti D , Hart RP , Chen C , Sudhof TC , Pang ZP
Ref : Mol Psychiatry , : , 2022
Abstract : Wang_2022_Mol.Psychiatry__
ESTHER : Wang_2022_Mol.Psychiatry__
PubMedSearch : Wang_2022_Mol.Psychiatry__
PubMedID: 36280753

Title : NMDA receptor hypofunction underlies deficits in parvalbumin interneurons and social behavior in neuroligin 3 R451C knockin mice - Cao_2022_Cell.Rep_41_111771
Author(s) : Cao W , Li JH , Lin S , Xia QQ , Du YL , Yang Q , Ye YZ , Zeng LH , Li XY , Xu J , Luo JH
Ref : Cell Rep , 41 :111771 , 2022
Abstract : Cao_2022_Cell.Rep_41_111771
ESTHER : Cao_2022_Cell.Rep_41_111771
PubMedSearch : Cao_2022_Cell.Rep_41_111771
PubMedID: 36476879

Title : The Emerging Role of the Gut-Brain-Microbiota Axis in Neurodevelopmental Disorders - Hosie_2022_Adv.Exp.Med.Biol_1383_141
Author(s) : Hosie S , Abo-Shaban T , Lee CYQ , Matta SM , Shindler A , Gore R , Sharna SS , Herath M , Crack PJ , Franks AE , Hill-Yardin EL
Ref : Advances in Experimental Medicine & Biology , 1383 :141 , 2022
Abstract : Hosie_2022_Adv.Exp.Med.Biol_1383_141
ESTHER : Hosie_2022_Adv.Exp.Med.Biol_1383_141
PubMedSearch : Hosie_2022_Adv.Exp.Med.Biol_1383_141
PubMedID: 36587154
Gene_locus related to this paper: human-NLGN3

Title : Mice with an autism-associated R451C mutation in neuroligin-3 show a cautious but accurate response style in touchscreen attention tasks - Burrows_2021_Genes.Brain.Behav__e12757
Author(s) : Burrows EL , May C , Hill T , Churliov L , Johnson KA , Hannan AJ
Ref : Genes Brain Behav , :e12757 , 2021
Abstract : Burrows_2021_Genes.Brain.Behav__e12757
ESTHER : Burrows_2021_Genes.Brain.Behav__e12757
PubMedSearch : Burrows_2021_Genes.Brain.Behav__e12757
PubMedID: 34085373
Gene_locus related to this paper: human-NLGN3

Title : An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum - Lai_2021_Front.Neural.Circuits_15_676891
Author(s) : Lai ESK , Nakayama H , Miyazaki T , Nakazawa T , Tabuchi K , Hashimoto K , Watanabe M , Kano M
Ref : Front Neural Circuits , 15 :676891 , 2021
Abstract : Lai_2021_Front.Neural.Circuits_15_676891
ESTHER : Lai_2021_Front.Neural.Circuits_15_676891
PubMedSearch : Lai_2021_Front.Neural.Circuits_15_676891
PubMedID: 34262438
Gene_locus related to this paper: human-NLGN3

Title : Environmental enrichment modulates affiliative and aggressive social behaviour in the neuroligin-3 R451C mouse model of autism spectrum disorder - Burrows_2020_Pharmacol.Biochem.Behav_195_172955
Author(s) : Burrows EL , Koyama L , May C , Hill-Yardin EL , Hannan AJ
Ref : Pharmacol Biochem Behav , 195 :172955 , 2020
Abstract : Burrows_2020_Pharmacol.Biochem.Behav_195_172955
ESTHER : Burrows_2020_Pharmacol.Biochem.Behav_195_172955
PubMedSearch : Burrows_2020_Pharmacol.Biochem.Behav_195_172955
PubMedID: 32474162

Title : An altered glial phenotype in the NL3(R451C) mouse model of autism - Matta_2020_Sci.Rep_10_14492
Author(s) : Matta SM , Moore Z , Walker FR , Hill-Yardin EL , Crack PJ
Ref : Sci Rep , 10 :14492 , 2020
Abstract : Matta_2020_Sci.Rep_10_14492
ESTHER : Matta_2020_Sci.Rep_10_14492
PubMedSearch : Matta_2020_Sci.Rep_10_14492
PubMedID: 32879325

Title : Altered Caecal Neuroimmune Interactions in the Neuroligin-3(R451C) Mouse Model of Autism - Sharna_2020_Front.Cell.Neurosci_14_85
Author(s) : Sharna SS , Balasuriya GK , Hosie S , Nithianantharajah J , Franks AE , Hill-Yardin EL
Ref : Front Cell Neurosci , 14 :85 , 2020
Abstract : Sharna_2020_Front.Cell.Neurosci_14_85
ESTHER : Sharna_2020_Front.Cell.Neurosci_14_85
PubMedSearch : Sharna_2020_Front.Cell.Neurosci_14_85
PubMedID: 32327975
Gene_locus related to this paper: human-NLGN3

Title : Mutations in neuroligin-3 in male mice impact behavioral flexibility but not relational memory in a touchscreen test of visual transitive inference - Norris_2019_Mol.Autism_10_42
Author(s) : Norris RHC , Churilov L , Hannan AJ , Nithianantharajah J
Ref : Mol Autism , 10 :42 , 2019
Abstract : Norris_2019_Mol.Autism_10_42
ESTHER : Norris_2019_Mol.Autism_10_42
PubMedSearch : Norris_2019_Mol.Autism_10_42
PubMedID: 31827744
Gene_locus related to this paper: mouse-3neur , human-NLGN3

Title : Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 - Hosie_2019_Autism.Res_12_1043
Author(s) : Hosie S , Ellis M , Swaminathan M , Ramalhosa F , Seger GO , Balasuriya GK , Gillberg C , Rastam M , Churilov L , McKeown SJ , Yalcinkaya N , Urvil P , Savidge T , Bell CA , Bodin O , Wood J , Franks AE , Bornstein JC , Hill-Yardin EL
Ref : Autism Res , 12 :1043 , 2019
Abstract : Hosie_2019_Autism.Res_12_1043
ESTHER : Hosie_2019_Autism.Res_12_1043
PubMedSearch : Hosie_2019_Autism.Res_12_1043
PubMedID: 31119867
Gene_locus related to this paper: mouse-3neur , human-NLGN3

Title : Altered Amygdala Excitation and CB1 Receptor Modulation of Aggressive Behavior in the Neuroligin-3(R451C) Mouse Model of Autism - Hosie_2018_Front.Cell.Neurosci_12_234
Author(s) : Hosie S , Malone DT , Liu S , Glass M , Adlard PA , Hannan AJ , Hill-Yardin EL
Ref : Front Cell Neurosci , 12 :234 , 2018
Abstract : Hosie_2018_Front.Cell.Neurosci_12_234
ESTHER : Hosie_2018_Front.Cell.Neurosci_12_234
PubMedSearch : Hosie_2018_Front.Cell.Neurosci_12_234
PubMedID: 30123111
Gene_locus related to this paper: mouse-3neur

Title : The neurobiological bases of autism spectrum disorders: the R451C-neuroligin 3 mutation hampers the expression of long-term synaptic depression in the dorsal striatum - Martella_2018_Eur.J.Neurosci_47_701
Author(s) : Martella G , Meringolo M , Trobiani L , De Jaco A , Pisani A , Bonsi P
Ref : European Journal of Neuroscience , 47 :701 , 2018
Abstract : Martella_2018_Eur.J.Neurosci_47_701
ESTHER : Martella_2018_Eur.J.Neurosci_47_701
PubMedSearch : Martella_2018_Eur.J.Neurosci_47_701
PubMedID: 28921757
Gene_locus related to this paper: mouse-3neur , human-NLGN3

Title : Gamma Oscillation Dysfunction in mPFC Leads to Social Deficits in Neuroligin 3 R451C Knockin Mice - Cao_2018_Neuron_97_1253
Author(s) : Cao W , Lin S , Xia QQ , Du YL , Yang Q , Zhang MY , Lu YQ , Xu J , Duan SM , Xia J , Feng G , Luo JH
Ref : Neuron , 97 :1253 , 2018
Abstract : Cao_2018_Neuron_97_1253
ESTHER : Cao_2018_Neuron_97_1253
PubMedSearch : Cao_2018_Neuron_97_1253
PubMedID: 29503190
Gene_locus related to this paper: mouse-3neur

Title : Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism - Burrows_2017_Neural.Plast_2017_8361290
Author(s) : Burrows EL , Eastwood AF , May C , Kolbe SC , Hill T , McLachlan NM , Churilov L , Hannan AJ
Ref : Neural Plast , 2017 :8361290 , 2017
Abstract : Burrows_2017_Neural.Plast_2017_8361290
ESTHER : Burrows_2017_Neural.Plast_2017_8361290
PubMedSearch : Burrows_2017_Neural.Plast_2017_8361290
PubMedID: 28255463
Gene_locus related to this paper: mouse-3neur

Title : A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice - Burrows_2015_Mol.Autism_6_62
Author(s) : Burrows EL , Laskaris L , Koyama L , Churilov L , Bornstein JC , Hill-Yardin EL , Hannan AJ
Ref : Mol Autism , 6 :62 , 2015
Abstract : Burrows_2015_Mol.Autism_6_62
ESTHER : Burrows_2015_Mol.Autism_6_62
PubMedSearch : Burrows_2015_Mol.Autism_6_62
PubMedID: 26583067
Gene_locus related to this paper: mouse-3neur

Title : Reduced susceptibility to induced seizures in the Neuroligin-3(R451C) mouse model of autism - Hill-Yardin_2015_Neurosci.Lett_589_57
Author(s) : Hill-Yardin EL , Argyropoulos A , Hosie S , Rind G , Anderson P , Hannan AJ , O'Brien TJ
Ref : Neuroscience Letters , 589 :57 , 2015
Abstract : Hill-Yardin_2015_Neurosci.Lett_589_57
ESTHER : Hill-Yardin_2015_Neurosci.Lett_589_57
PubMedSearch : Hill-Yardin_2015_Neurosci.Lett_589_57
PubMedID: 25592157
Gene_locus related to this paper: mouse-3neur

Title : Autism-related neuroligin-3 mutation alters social behavior and spatial learning - Jaramillo_2014_Autism.Res_7_264
Author(s) : Jaramillo TC , Liu S , Pettersen A , Birnbaum SG , Powell CM
Ref : Autism Res , 7 :264 , 2014
Abstract : Jaramillo_2014_Autism.Res_7_264
ESTHER : Jaramillo_2014_Autism.Res_7_264
PubMedSearch : Jaramillo_2014_Autism.Res_7_264
PubMedID: 24619977
Gene_locus related to this paper: mouse-3neur

Title : Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function - Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764
Author(s) : Etherton M , Foldy C , Sharma M , Tabuchi K , Liu X , Shamloo M , Malenka RC , Sudhof TC
Ref : Proc Natl Acad Sci U S A , 108 :13764 , 2011
Abstract : Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764
ESTHER : Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764
PubMedSearch : Etherton_2011_Proc.Natl.Acad.Sci.U.S.A_108_13764
PubMedID: 21808020
Gene_locus related to this paper: human-NLGN3

Title : Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice - Chadman_2008_Autism.Res_1_147
Author(s) : Chadman KK , Gong S , Scattoni ML , Boltuck SE , Gandhy SU , Heintz N , Crawley JN
Ref : Autism Res , 1 :147 , 2008
Abstract : Chadman_2008_Autism.Res_1_147
ESTHER : Chadman_2008_Autism.Res_1_147
PubMedSearch : Chadman_2008_Autism.Res_1_147
PubMedID: 19360662
Gene_locus related to this paper: mouse-3neur

Title : A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice - Tabuchi_2007_Science_318_71
Author(s) : Tabuchi K , Blundell J , Etherton MR , Hammer RE , Liu X , Powell CM , Sudhof TC
Ref : Science , 318 :71 , 2007
Abstract : Tabuchi_2007_Science_318_71
ESTHER : Tabuchi_2007_Science_318_71
PubMedSearch : Tabuchi_2007_Science_318_71
PubMedID: 17823315
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X