MGI phenotypes (allele matching)
STOCK Dbptm1Schb Hlftm1Schb Teftm1Schb/Cnrm
| Status | Available to order |
| EMMA ID | EM:02489 |
| 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 | Teftm1Schb, |
| Gene/Transgene symbol | 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