B6;129S2-Hlftm1Schb/Cnrm
| Status | Available to order |
| EMMA ID | EM:02172 |
| International strain name | B6;129S2-Hlftm1Schb/Cnrm |
| Alternative name | C57BL/6J HLF-KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Hlftm1Schb, |
| Gene/Transgene symbol | Hlf |
Information from provider
| Provider | Ueli Schibler |
| Provider affiliation | University of Geneva |
| Genetic information | The construct is a LacZ-neo cassette which has been targeted to the EcoRI-NotI sites of Hlf gene Exon 2. |
| Phenotypic information | Unknown phenotype. |
| References |
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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
- 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
- Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.;Hawkins Nicole A, Kearney Jennifer A, ;2016;Epilepsy research;119;20-3; 26656780