About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nhlrc1tm1Bmin
targeted mutation 1, Berge A Minassian
MGI:5312923
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nhlrc1tm1Bmin/Nhlrc1tm1Bmin involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr MGI:5313256


Genotype
MGI:5313256
hm1
Allelic
Composition
Nhlrc1tm1Bmin/Nhlrc1tm1Bmin
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nhlrc1tm1Bmin mutation (0 available); any Nhlrc1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at 6 months, mice exhibit numerous Lafora bodies in the skeletal muscle, liver and brain (in the neuronal perikarya and dendrites) unlike in wild-type mice

homeostasis/metabolism
N
• glycogen synthase quantity and activity is normal
• at 6 months, glycogen phosphate content is increased 1.5-fold in skeletal muscle and liver compared to in wild-type mice
• 1.2-fold at 6 months

liver/biliary system
• 1.2-fold at 6 months

muscle

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Lafora disease DOID:3534 OMIM:254780
J:181674





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/23/2024
MGI 6.23
The Jackson Laboratory