MGI phenotypes (gene matching)
B6.Cg-Ophn1tm1Bill/Ics
| Status | Available to order |
| EMMA ID | EM:10690 |
| 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 |
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| 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