MGI phenotypes (gene matching)
B6.Cg-Ophn1tm1Bill/Ics
| Status | Available to order |
| EMMA ID | EM:10690 |
| Citation information | RRID:IMSR_EM:10690 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 | B6.Cg-Ophn1tm1Bill/Ics |
| Alternative name | ophn1 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ophn1tm1Bill |
| Gene/Transgene symbol | Ophn1 |
Information from provider
| Provider | Pierre Billuart |
| Provider affiliation | Institut Cochin |
| Genetic information | A loxP flanked hygromycin resistance cassette was inserted into exon 9 of this X chromosome gene. Chimeric male mice were mated with Cre-recombinase transgenic female mice to remove the selection cassette. The remaining loxP site caused a frameshift mutation and a premature STOP codon. Hemizygous males expressed no protein as determined by Western blots on brain and liver extracts. |
| Phenotypic information | Homozygous:not characterized in femaleHeterozygous:Hemizygous males present with deficit in fear and spatial, memories, have novelty driven hyperactivity and show brain ventricular enlargement without alteration of cerebellum. Heterozygous females have no apparent phenotype. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- X-linked intellectual disability-cerebellar hypoplasia syndrome / Orphanet_137831
Literature references
- Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity.;Khelfaoui Malik, Denis Cécile, van Galen Elly, de Bock Frédéric, Schmitt Alain, Houbron Christophe, Morice Elise, Giros Bruno, Ramakers Ger, Fagni Laurent, Chelly Jamel, Nosten-Bertrand Marika, Billuart Pierre, ;2007;The Journal of neuroscience : the official journal of the Society for Neuroscience;27;9439-50; 17728457
- Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.;Khelfaoui Malik, Pavlowsky Alice, Powell Andrew D, Valnegri Pamela, Cheong Kenneth W, Blandin Yann, Passafaro Maria, Jefferys John G R, Chelly Jamel, Billuart Pierre, ;2009;Human molecular genetics;18;2575-83; 19401298
- Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation.;Powell Andrew D, Gill Kalbinder K, Saintot Pierre-Philippe, Jiruska Premysl, Chelly Jamel, Billuart Pierre, Jefferys John G R, ;2012;The Journal of physiology;590;763-76; 22124149
- Reduced gamma oscillations in a mouse model of intellectual disability: a role for impaired repetitive neurotransmission?;Powell Andrew D, Saintot Pierre-Philippe, Gill Kalbinder K, Bharathan Ashtami, Buck S Caroline, Morris Gareth, Jiruska Premysl, Jefferys John G R, ;2014;PloS one;9;e95871; 24800744
- Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells.;Houy Sébastien, Estay-Ahumada Catherine, Croisé Pauline, Calco Valérie, Haeberlé Anne-Marie, Bailly Yannick, Billuart Pierre, Vitale Nicolas, Bader Marie-France, Ory Stéphane, Gasman Stéphane, ;2015;The Journal of neuroscience : the official journal of the Society for Neuroscience;35;11045-55; 26245966
- Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.;Meziane Hamid, Khelfaoui Malik, Morello Noemi, Hiba Bassem, Calcagno Eleonora, Reibel-Foisset Sophie, Selloum Mohammed, Chelly Jamel, Humeau Yann, Riet Fabrice, Zanni Ginevra, Herault Yann, Bienvenu Thierry, Giustetto Maurizio, Billuart Pierre, ;2016;Human molecular genetics;25;2314-2323; 27146843
- Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis.;Niermann Christina, Gorressen Simone, Klier Meike, Gowert Nina S, Billuart Pierre, Kelm Malte, Merx Marc W, Elvers Margitta, ;2016;Cellular signalling;28;967-78; 27117132