IMPC phenotypes (gene matching)
B6.129-Abcc8tm1.1Fmas/LaakFmasH
| Status | Available to order |
| EMMA ID | EM:07416 |
| International strain name | B6.129-Abcc8tm1.1Fmas/LaakFmasH |
| Alternative name | SUR1-E1506K mutant |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Abcc8tm1.1Fmas |
| Gene/Transgene symbol | Abcc8 |
Information from provider
| Provider | Markku Laakso |
| Provider affiliation | Department of Medicine |
| Genetic information | This mouse has a knock-in mutation in Abcc8, the gene encoding the sulphonylurea receptor SUR1, which constitutes the regulatory subunit of the ATP-sensitive K-channel. In humans, this same mutation causes congenital hyperinsulinism. |
| Phenotypic information | Homozygous mice develop mild glucose intolerance with age due to a reduction in insulin content in the pancreatic beta-cells. Heterozygous mice are far less affected. Unlike in humans, there is no clear hyperinsulinism in the neonatal period. |
| Breeding history | Backcrossed to C57BL/6. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- DEND syndrome / Orphanet_79134
- MODY / Orphanet_552
- Transient neonatal diabetes mellitus / Orphanet_99886
- Autosomal recessive hyperinsulinism due to SUR1 deficiency / Orphanet_79643
- Permanent neonatal diabetes mellitus / Orphanet_99885
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency / Orphanet_276598
- Autosomal dominant hyperinsulinism due to SUR1 deficiency / Orphanet_276575
MGI phenotypes (gene matching)
- hypoglycemia / MGI
- no phenotypic analysis / MGI
- increased insulin secretion / MGI
- decreased insulin secretion / MGI
- abnormal insulin secretion / MGI
- abnormal pancreatic beta cell morphology / MGI
- impaired glucose tolerance / MGI
- homeostasis/metabolism phenotype / MGI
- increased circulating glucose level / MGI
- decreased circulating glucose level / MGI
Literature references
- A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.;Shimomura Kenju, Tusa Maija, Iberl Michaela, Brereton Melissa F, Kaizik Stephan, Proks Peter, Lahmann Carolina, Yaluri Nagendra, Modi Shalem, Huopio Hanna, Ustinov Jarkko, Otonkoski Timo, Laakso Markku, Ashcroft Frances M, ;2013;Diabetes;62;3797-806; 23903354