IMPC phenotypes (gene matching)
C57BL/6N-Kcnj11tm1c(EUCOMM)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:10056 |
| Citation information | RRID:IMSR_EM:10056 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 | C57BL/6N-Kcnj11tm1c(EUCOMM)Wtsi/H |
| Alternative name | EPD0974_3_G05 |
| Strain type | Targeted Mutant Strains : Targeted Conditional |
| Allele/Transgene symbol | Kcnj11tm1c(EUCOMM)Wtsi |
| Gene/Transgene symbol | Kcnj11 |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This line originates from EUCOMM ES clone EPD0974_3_G05, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm1a (knock-out first allele) into a conditional allele tm1c. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
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
MGI phenotypes (gene matching)
- hypoglycemia / MGI
- myoclonus / MGI
- convulsive seizures / MGI
- pigmentation phenotype / MGI
- increased anxiety-related response / MGI
- decreased anxiety-related response / MGI
- impaired coordination / MGI
- decreased exploration in new environment / MGI
- abnormal motor capabilities/coordination/movement / MGI
- abnormal glucose homeostasis / MGI
- abnormal emotion/affect behavior / MGI
- decreased glucagon secretion / MGI
- decreased circulating insulin level / MGI
- decreased vertical activity / MGI
- impaired skeletal muscle contractility / MGI
- increased insulin sensitivity / MGI
- no phenotypic analysis / MGI
- increased insulin secretion / MGI
- decreased aerobic running capacity / MGI
- abnormal locomotor activation / MGI
- abnormal nerve fiber response / MGI
- abnormal nerve fiber response intensity / MGI
- muscle fatigue / MGI
- tonic-clonic seizures / MGI
- abnormal muscle relaxation / MGI
- increased mean systemic arterial blood pressure / MGI
- increased energy expenditure / MGI
- increased oxygen consumption / MGI
- impaired glucose tolerance / MGI
- abnormal action potential / MGI
- abnormal food intake / MGI
- increased circulating atrial natriuretic factor / MGI
- decreased susceptibility to diet-induced obesity / MGI
- abnormal spatial reference memory / MGI
- slow postnatal weight gain / MGI
- decreased subcutaneous adipose tissue amount / MGI
- decreased abdominal fat pad weight / MGI
- increased sensitivity to induced morbidity/mortality / MGI