IMPC phenotypes (gene matching)
C57BL/6N-Kcnj11tm1c(EUCOMM)Wtsi/H
| Status | Available to order |
| EMMA ID | EM:10056 |
| 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