MGI phenotypes (gene matching)
B6.129S2-Ophn1tm2Bill/Ics
| Status | Available to order |
| EMMA ID | EM:10691 |
| Citation information | RRID:IMSR_EM:10691 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 | B6.129S2-Ophn1tm2Bill/Ics |
| Alternative name | ophn1 tm2Bill |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Ophn1tm2Bill |
| Gene/Transgene symbol | Ophn1 |
Information from provider
| Provider | Pierre Billuart |
| Provider affiliation | Institut Cochin |
| Genetic information | This conditional allele has been generated by deleting the first coding exon and by inserting an inverted floxed cassette. This cassette contains the Homo sapiens OPHN1 cDNA tagged with the Flag epitope at the amino terminal part. It also contains the human alpha chain of the CD8 receptor in the opposite transcriptional direction. Upon cre recombinase expression, there is a unidirectional inversion mediated by mutated loxP sites. This results in the loss of OPHN1 expression and the expression of CD8 alpha instead. The initial purpose of expressing the alpha chain was to decorate the membrane of KO cells but for an unknown reason, it is not expressed. Also the insertion of the cassette alters the expression of this allele compared to WT allele (about 75%) which could result in a hypomorphic allele but up to now there is no phenotype described with this conditional allele in absence of cre. |
| Phenotypic information | Homozygous:Not tested in homozygous females.Heterozygous:No phenotype in hemizygous males or in heterozygous females in the absence of cre expression. |
| 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
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