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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nhlrc1tm1(KOMP)Vlcg
targeted mutation 1, Velocigene
MGI:3808349
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg involves: C57BL/6J * C57BL/6NTac MGI:4839642
hm2
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg involves: C57BL/6NTac MGI:5697672
cn3
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Gys1tm1a(EUCOMM)Wtsi/Gys1tm1a(EUCOMM)Wtsi
Tg(Nes-cre)1Kag/?
involves: C57BL/6NTac MGI:5697670
cn4
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Gys1tm1a(EUCOMM)Wtsi/Gys1+
Tg(Nes-cre)1Kag/?
involves: C57BL/6NTac MGI:5697671
cx5
Hprttm2(CAG-Ppp1r3c)Jjg/?
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
involves: C57BL/6NTac MGI:5697675


Genotype
MGI:4839642
hm1
Allelic
Composition
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Genetic
Background
involves: C57BL/6J * C57BL/6NTac
Cell Lines 10571D-E2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nhlrc1tm1(KOMP)Vlcg mutation (0 available); any Nhlrc1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Lafora bodies in tissues of Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg mice

homeostasis/metabolism
• mice exhibit increased total glycogen levels in brain
• brain glycogen levels in the insoluble pellet is increased compared to in wild-type mice
• mice exhibit increased total glycogen levels in the heart muscle
• mice exhibit increased total glycogen levels in the heart muscle, skeletal muscle, and brain compared with wild-type mice
• mice exhibit increased total glycogen levels in skeletal muscle (J:165994)

muscle
• mice exhibit increased total glycogen levels in the heart muscle
• mice exhibit increased total glycogen levels in skeletal muscle (J:165994)

behavior/neurological
• mice show spontaneous hippocampal seizures accompanied on occasion by myoclonus after a single injection of kainic acid unlike wild-type mice
• the presence of seizures reduces the amplitude and slope of fEPSPs evoked at the CA3-CA1 synapse
• train stimulation of Schaffer collaterals evokes long-lasting after-discharges in mutants but not wild-type mice
• mice are hyperactive at 11 months of age and show an increase in exploratory behavior, indicating reduced anxiety
• mice are hyperactive at 11 months of age and show an increase in exploratory behavior
• however, mice show normal gait and normal behavior in the rotarod or beam walking tests

nervous system
• mice show spontaneous hippocampal seizures accompanied on occasion by myoclonus after a single injection of kainic acid unlike wild-type mice
• the presence of seizures reduces the amplitude and slope of fEPSPs evoked at the CA3-CA1 synapse
• train stimulation of Schaffer collaterals evokes long-lasting after-discharges in mutants but not wild-type mice
• at 16 months of age, mutant brains accumulate similar but larger and more abundant PAS- and muscle glycogen synthase (MGS)-positive polyglucosan bodies (PGBs) in the hippocampus, cerebellum, and piriform cortex than age-matched wild-type brains (J:216806)
• age-related PGBs resemble corpora amylacea (polysaccharide-based aggregates observed in aged human brain) and are also positive for other glycogen-binding proteins, such as laforin and BGP (the glycogen-degrading enzyme), stress-response proteins (such as ubiquitin, HSP70, and advanced glycation end products), parvalbumin and alpha-synuclein (J:216806)
• at 16 months of age, PGB distribution among astrocytes and neuronal cells is similar to than in aged wild-type brains (J:216806)
• Laforin bodies are seen in several areas of the brain, most abundantly in the hippocampus and cerebellum, with glycogen-content increased 2-fold in whole brain of 11 month old mice (J:218959)
• Laforin bodies accumulate in glial cells by 11 months of age
• astrocytes often show Laforin bodies in their cytoplasm by 4 months of age
• 11 month old mice show an increase in GFAP+ cells in the hippocampus, indicating gliosis
• Laforin bodies accumulate in neurons by 11 months of age, in the neuronal somata of hippocampal PV+ interneurons and occasionally in their dendritic processes
• degeneration of PV+ interneurons in the hippocampus, with mice showing a reduction in the number of PV+ neurons at 11 months of age
• mice exhibit increased Lafora bodies in the heart muscle, skeletal muscle, and brain compared with wild-type mice (J:165994)
• however, no Lafora bodies are detected in the liver (J:165994)
• Laforin body inclusions increase in number and size with age (J:218959)
• Laforin bodies accumulate in glial cells and neurons (J:218959)
• Laforin bodies are also seen in some fibers of skeletal muscle and heart (J:218959)
• mice exhibit larger fEPSP amplitudes at higher stimulus intensities at the CA1 area, suggesting an enhanced synaptic excitability
• however, short-term plastic processes are not affected
• mice show larger and longer-lasting LTPs

Mouse Models of Human Disease
OMIM ID Ref(s)
Myoclonic Epilepsy of Lafora 254780 J:165994 , J:218959




Genotype
MGI:5697672
hm2
Allelic
Composition
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nhlrc1tm1(KOMP)Vlcg mutation (0 available); any Nhlrc1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• impaired autophagy

nervous system
• induction of seizures by Kainic acid
• seizure response following train stimulation of CA3-CA1 synapse
• extensive neurodegeneration in the brain

behavior/neurological
• induction of seizures by Kainic acid
• seizure response following train stimulation of CA3-CA1 synapse




Genotype
MGI:5697670
cn3
Allelic
Composition
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Gys1tm1a(EUCOMM)Wtsi/Gys1tm1a(EUCOMM)Wtsi
Tg(Nes-cre)1Kag/?
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gys1tm1a(EUCOMM)Wtsi mutation (0 available); any Gys1 mutation (32 available)
Nhlrc1tm1(KOMP)Vlcg mutation (0 available); any Nhlrc1 mutation (3 available)
Tg(Nes-cre)1Kag mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no neurodegeneration in brains
• reduced induction of seizures by Kainic acid
• modest seizure response following train stimulation of CA3-CA1 synapse

cellular
N
• autophagy is not impaired

behavior/neurological
• reduced induction of seizures by Kainic acid
• modest seizure response following train stimulation of CA3-CA1 synapse




Genotype
MGI:5697671
cn4
Allelic
Composition
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Gys1tm1a(EUCOMM)Wtsi/Gys1+
Tg(Nes-cre)1Kag/?
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gys1tm1a(EUCOMM)Wtsi mutation (0 available); any Gys1 mutation (32 available)
Nhlrc1tm1(KOMP)Vlcg mutation (0 available); any Nhlrc1 mutation (3 available)
Tg(Nes-cre)1Kag mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced induction of seizures by Kainic acid
• modest seizure response following train stimulation of CA3-CA1 synapse
• modest neurodegeneration in brains

cellular
• modest level of autophagy

behavior/neurological
• reduced induction of seizures by Kainic acid
• modest seizure response following train stimulation of CA3-CA1 synapse




Genotype
MGI:5697675
cx5
Allelic
Composition
Hprttm2(CAG-Ppp1r3c)Jjg/?
Nhlrc1tm1(KOMP)Vlcg/Nhlrc1tm1(KOMP)Vlcg
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprttm2(CAG-Ppp1r3c)Jjg mutation (0 available); any Hprt mutation (1206 available)
Nhlrc1tm1(KOMP)Vlcg mutation (0 available); any Nhlrc1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain accumulation of glycogen

cellular
• impaired autophagy





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory