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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