Gene Locus : mouse-3neur, mouse-3neur, mouse-3neur
Mode of mutation : Site directed mutagenesis
Disease :
Summary : Site directed mutagenesis R617W substitution in neuroligin-3 R617W mutant mice showed significant decrease in the capacity for spatial memory and exploration, as well as the expression levels of the postsynaptic scaffolding proteins, PSD95 and SHANK3 Gao_2025_Actas.Esp.Psiquiatr_53_253
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 517
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
This mutation not yet described in patients but present as clinical variant in genome wide studies and predicted to be pathogenic. The mouse model does not show decrease of expression of NLGN3 but impaired proteien protein interactions, and behavioral impairment. The position 517 in cholinesterase has been tested in BChE
| Title : Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study - Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| Author(s) : Gao W , Cai Q , Ying X , Zhao B |
| Ref : Actas Esp Psiquiatr , 53 :253 , 2025 |
| Abstract : |
| PubMedSearch : Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| PubMedID: 40071366 |
| Title : Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study - Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| Author(s) : Gao W , Cai Q , Ying X , Zhao B |
| Ref : Actas Esp Psiquiatr , 53 :253 , 2025 |
| Abstract : |
| PubMedSearch : Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| PubMedID: 40071366 |
| Title : Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study - Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| Author(s) : Gao W , Cai Q , Ying X , Zhao B |
| Ref : Actas Esp Psiquiatr , 53 :253 , 2025 |
| Abstract : |
| PubMedSearch : Gao_2025_Actas.Esp.Psiquiatr_53_253 |
| PubMedID: 40071366 |