IMPC phenotypes (gene matching)
C57BL/6NTac-Kcnj11em1H/H
| Status | Available to order |
| EMMA ID | EM:12523 |
| International strain name | C57BL/6NTac-Kcnj11em1H/H |
| Alternative name | KCNJ11-E23K-EM1-B6N |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Kcnj11em1H |
| Gene/Transgene symbol | Kcnj11 |
Information from provider
| Provider | MRC-Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
| Phenotypic information | Homozygous:Not knownHeterozygous:None reported |
| Breeding history | Co-isogenic on original background |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- DEND syndrome / Orphanet_79134
- Intermediate DEND syndrome / Orphanet_99989
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency / Orphanet_276580
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency / Orphanet_79644
- MODY / Orphanet_552
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency / Orphanet_276603
- Transient neonatal diabetes mellitus / Orphanet_99886
- Permanent neonatal diabetes mellitus / Orphanet_99885
Literature references
- Endothelial PDGF-CC regulates angiogenesis-dependent thermogenesis in beige fat.;Seki Takahiro, Hosaka Kayoko, Lim Sharon, Fischer Carina, Honek Jennifer, Yang Yunlong, Andersson Patrik, Nakamura Masaki, Näslund Erik, Ylä-Herttuala Seppo, Sun Meili, Iwamoto Hideki, Li Xuri, Liu Yizhi, Samani Nilesh J, Cao Yihai, ;2016;Nature communications;7;12152; 27492130