IMPC phenotypes (gene matching)
B6;CBA-Bex3em2Jjcar/Cnbc
| Status | Available to order |
| EMMA ID | EM:14601 |
| Citation information | RRID:IMSR_EM:14601 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;CBA-Bex3em2Jjcar/Cnbc |
| Alternative name | Bex3-Delta(24-72) |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Bex3em2Jjcar |
| Gene/Transgene symbol | Bex3 |
Information from provider
| Provider | Jaime J Carvajal García-Valdecasas |
| Provider affiliation | CABD-CSIC |
| Genetic information | CRISPR/Cas9 technology was used to target the mouse Bex3 gene located at chromosome X. Bex3-Delta(24-72) mice carry a 147-bp deletion in exon 3, which is the first and only coding exon. This deletion removes 49 amino acids of the central core of the protein, specifically the pro-apoptotic domain. The protein still retains the C-terminal coiled coil domain required for BEX3 dimerization, nuclear import, ubiquitination, and interaction with its multiple partners. CRISPR technology details: The Cas9 mRNA was obtained from SBI (System Biosciences, cat number CAS500A-1) and it has not been integrated in the mouse genome. |
| Phenotypic information | Homozygous:Bex3-Delta(24-72) homozygous mice display skull and brain abnormalities, as well as a plethora of behavioural and cognitive alterations. Of note, these phenotypes are less severe than in Bex3 knock-out mice (EMMA strain ID EM:13658). At the molecular level, they present aberrant mTOR signalling in the brain. These phenotypes are reminiscent of human neurological disorders such as ASD or schizophrenia.Heterozygous:Since Bex3 is located in the X chromosome, male hemizygous mutant mice display the same phenotype as homozygous females, which is described in the previous section. Heterozygous females show no apparent phenotype. |
| Breeding history | Line is maintained by sibling breeding with occasional outbreeding to the founder stock (CBA x C57BL/6)F1 hybrid. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Literature references
- Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.;Navas-Pérez Enrique, Vicente-García Cristina, Mirra Serena, Burguera Demian, Fernàndez-Castillo Noèlia, Ferrán José Luis, López-Mayorga Macarena, Alaiz-Noya Marta, Suárez-Pereira Irene, Antón-Galindo Ester, Ulloa Fausto, Herrera-Úbeda Carlos, Cuscó Pol, Falcón-Moya Rafael, Rodríguez-Moreno Antonio, D'Aniello Salvatore, Cormand Bru, Marfany Gemma, Soriano Eduardo, Carrión Ángel M, Carvajal Jaime J, Garcia-Fernàndez Jordi, ;2020;Genome biology;21;267; 33100228