IMPC phenotypes (gene matching)
B6N.129P2-NbeaGt(RRK418)Byg/Ieg
| Status | Available to order |
| EMMA ID | EM:14926 |
| Citation information | RRID:IMSR_EM:14926 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6N.129P2-NbeaGt(RRK418)Byg/Ieg |
| Alternative name | Nbea-Gt(RRK418)Byg (Neurobeachin gene-trap KO; MGI:4130191) |
| Strain type | Gene-trap |
| Allele/Transgene symbol | NbeaGt(RRK418)Byg |
| Gene/Transgene symbol | Nbea |
Information from provider
| Provider | Manfred Kilimann |
| Provider affiliation | Molecular Neurobiology, MPI for Multidisciplinary Sciences |
| Genetic information | This mouse line is derived from the RRK418 gene trap ES cell line, generated by BayGenomics. The gene trap vector inserted 385 bp downstream of exon 6. The first 389 bp of the vector were lost during the insertion without affecting gene trapping. The virtually complete loss of protein expression was confirmed by Western blot analysis on brain extracts. Homozygous mice die immediately after birth. The mouse line has been characterized by Medrihan et al. 2009 and several subsequent publications. |
| Phenotypic information | Homozygous:Homozygous mice die at birth from breathing paralysis.Heterozygous:Heterozygous mice appear healthy, viable and fertile. Rigorous phenotyping detects subtle anomalies in feeding and social behaviours. |
| Breeding history | The mutant mice were backcrossed to the C57BL/6N background over more than 10 generations. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469
Literature references
- Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.;Medrihan Lucian, Rohlmann Astrid, Fairless Richard, Andrae Johanna, Döring Markus, Missler Markus, Zhang Weiqi, Kilimann Manfred W, ;2009;The Journal of physiology;587;5095-106; 19723784
- Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.;Olszewski Pawel K, Rozman Jan, Jacobsson Josefin A, Rathkolb Birgit, Strömberg Siv, Hans Wolfgang, Klockars Anica, Alsiö Johan, Risérus Ulf, Becker Lore, Hölter Sabine M, Elvert Ralf, Ehrhardt Nicole, Gailus-Durner Valérie, Fuchs Helmut, Fredriksson Robert, Wolf Eckhard, Klopstock Thomas, Wurst Wolfgang, Levine Allen S, Marcus Claude, de Angelis Martin Hrabě, Klingenspor Martin, Schiöth Helgi B, Kilimann Manfred W, ;2012;PLoS genetics;8;e1002568; 22438821
- Neurobeachin regulates neurotransmitter receptor trafficking to synapses.;Nair Ramya, Lauks Juliane, Jung SangYong, Cooke Nancy E, de Wit Heidi, Brose Nils, Kilimann Manfred W, Verhage Matthijs, Rhee JeongSeop, ;2013;The Journal of cell biology;200;61-80; 23277425
- Neurobeachin and the Kinesin KIF21B Are Critical for Endocytic Recycling of NMDA Receptors and Regulate Social Behavior.;Gromova Kira V, Muhia Mary, Rothammer Nicola, Gee Christine E, Thies Edda, Schaefer Irina, Kress Sabrina, Kilimann Manfred W, Shevchuk Olga, Oertner Thomas G, Kneussel Matthias, ;2018;Cell reports;23;2705-2717; 29847800
- Dendritic spine formation and synaptic function require neurobeachin.;Niesmann Katharina, Breuer Dorothee, Brockhaus Johannes, Born Gesche, Wolff Ilka, Reissner Carsten, Kilimann Manfred W, Rohlmann Astrid, Missler Markus, ;2011;Nature communications;2;557; 22109531