Stock B6.129-Abcc8<tm1.1Fmas>/LaakFmasH
FESA Number
6407
Strain Name
B6.129-Abcc8<tm1.1Fmas>/LaakFmasH
Mutation Strain Type
Attribution
| Institution name | Depositor / Originator | Name |
|---|---|---|
| University of Oxford | Originator | Retained |
Gene/Allele Information
| Allele Name | Allele MGI ID | Gene Name | Gene MGI ID | Chromosome |
|---|---|---|---|---|
| Abcc8<tm1.1Fmas> | MGI:5568409 | Abcc8 | MGI:1352629 | 7 |
Severity Limit
Mild
Phenotypic Description
Homozygous mice develop mild glucose intolerance with age due to a reduction in insulin content in the pancreatic beta-cell. Heterozygous mice are far less affected. Unlike in humans, there is no clear hyperinsulinism in the neonatal period.
Orphanet Disorders
| OrphaNet ID | Name | Url |
|---|---|---|
| 276 575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276575 |
| 276 598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276598 |
| 552 | MODY syndrome | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=552 |
| 79 643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79643 |
| 99 885 | Permanent neonatal diabetes mellitus | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99885 |
| 99 886 | Transient neonatal diabetes mellitus | http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99886 |
Publications
Orphanet Categories
Rare endocrine disease
EMMA ID
EM:7416
Genetic Status
GMO
Background Strain Name
C57BL/6J
Background Strain MGI ID
MGI:3028467
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