MGI phenotypes (gene matching)
- no abnormal phenotype detected / MGI
B6;129S2-Hlftm1Schb/Cnrm
| Status | Available to order |
| EMMA ID | EM:02172 |
| Citation information | RRID:IMSR_EM:02172 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;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