IMPC phenotypes (gene matching)
B6;CBA-Bex3em2Jjcar/Cnbc
| Status | Available to order |
| EMMA ID | EM:14601 |
| 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 |
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