IMPC phenotypes (gene matching)
B6.129-Abcc8tm1.1Fmas/LaakFmasH
| Status | Available to order |
| EMMA ID | EM:07416 |
| Citation information | RRID:IMSR_EM:07416 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 | 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