MGI phenotypes (allele matching)
STOCK Dbptm1Schb Hlftm1Schb Teftm1Schb/Cnrm
| Status | Available to order |
| EMMA ID | EM:02489 |
| Citation information | RRID:IMSR_EM:02489 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 | STOCK Dbptm1Schb Hlftm1Schb Teftm1Schb/Cnrm |
| Alternative name | HLF-KO/DBP-KO/TEF-heterozygous |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Hlftm1Schb, Dbptm1Schb, Teftm1Schb |
| Gene/Transgene symbol | Hlf, Dbp, Tef |
Information from provider
| Provider | Ueli Schibler |
| Provider affiliation | University of Geneva |
| Genetic information | Hlf: lacZ and PGK-neo replaced exon 2, which encodes the transactivation domain. Dbp: the entire coding region, consisting of sequence from exons 1 through 4, was deleted by the insertion of a cassette containing lacZ and neo. Tef: lacZ and PGK-neo replaced exon 2, which encodes the transactivation domain. |
| Phenotypic information | Premature death: 50% of the mice died within the first 2 months of age due to lethal seizures. Audiogenic seizures can be observed in some mice. Spontaneous tonic-clonic seizures happen more during early light period hours. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | yes |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Perrault syndrome / Orphanet_2855
- Bifunctional enzyme deficiency / Orphanet_300
- Multiple paragangliomas associated with polycythemia / Orphanet_324299
- Sporadic pheochromocytoma/secreting paraganglioma / Orphanet_276621
- Autosomal dominant secondary polycythemia / Orphanet_247511
Literature references
- The loss of circadian PAR bZip transcription factors results in epilepsy.;Gachon Frédéric, Fonjallaz Philippe, Damiola Francesca, Gos Pascal, Kodama Tohru, Zakany Jozsef, Duboule Denis, Petit Brice, Tafti Mehdi, Schibler Ueli, ;2004;Genes & development;18;1397-412; 15175240
- A transcriptional constraint mechanism limits the homeostatic response to activity deprivation in mammalian neocortex.;Valakh Vera, Wise Derek, Zhu Xiaoyue Aelita, Sha Mingqi, Fok Jaidyn, Van Hooser Stephen D, Schectman Robin, Cepeda Isabel, Kirk Ryan, O'Toole Sean M, Nelson Sacha B, ;2023;eLife;12;; 36749029