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 | Mammalian Genetics Unit, 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
IMPC phenotypes (gene matching)
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
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