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Phenotypes Associated with This Genotype
Genotype
MGI:3033756
Allelic
Composition
Gaatm1Rabn/Gaatm1Rabn
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1Rabn mutation (1 available); any Gaa mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal lysosomal glycogen storage in heart and skeletal muscle of Gaatm1Rabn/Gaatm1Rabn mice

behavior/neurological
• severely impaired on a rotarod at 8-11 months of age (J:76435)
• severely impaired on a rotarod at 8-11 months of age (J:76435)
• in the wire-hang task, homozygous mutants perform poorly, indicating poor muscular function and grip strength (J:48839)
• at 15-16 weeks of age, homozygous mutant mice are almost never able to hold on to the inverted screen for more than 2 minutes (J:48839)
• in the wire-hang task, homozygous mutants perform poorly, indicating poor muscular function and grip strength (J:48839)
• at 15-16 weeks of age, homozygous mutant mice are almost never able to hold on to the inverted screen for more than 2 minutes (J:48839)
• starting at 3.5 weeks of age, display a striking reduction in vertical activity in the open field (J:48839)
• starting at 3.5 weeks of age, display a striking reduction in vertical activity in the open field (J:48839)
• as early as 3.5 weeks of age, display reduced activity in the horizontal open field test, and consistently perform significantly worse than age-matched heterozygotes when placed in an open field environment (J:48839)
• as early as 3.5 weeks of age, display reduced activity in the horizontal open field test, and consistently perform significantly worse than age-matched heterozygotes when placed in an open field environment (J:48839)
• develop abnormal field behavior within the first months of life (J:76435)
• develop abnormal field behavior within the first months of life (J:76435)
• at 7-9 months of age, display a weak, waddling gait (J:48839)
• at 7-9 months of age, display a weak, waddling gait (J:48839)
• by 16-18 months of age, display near paralysis of the hindlimbs and an abnormal footprint pathway (J:76435)
• by 16-18 months of age, display near paralysis of the hindlimbs and an abnormal footprint pathway (J:76435)

muscle
• accumulation of lysosomal glycogen in skeletal muscle (J:48839)
• accumulation of lysosomal glycogen in skeletal muscle (J:48839)
• in contrast to frozen quadricep muscles from wild-type mice which contain very little glycogen and >50% of their glycogen phosphorylase is in the form of phosphorylase-a (Ph-a), quadricep muscles from homozygous mutant mice have little or no Ph-a activity and contain 20 times or more glycogen (J:73924)
• in contrast to frozen quadricep muscles from wild-type mice which contain very little glycogen and >50% of their glycogen phosphorylase is in the form of phosphorylase-a (Ph-a), quadricep muscles from homozygous mutant mice have little or no Ph-a activity and contain 20 times or more glycogen (J:73924)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• display a significant reduction in the number of myofibrils and lack of lateral myofibrillar registration (J:48839)
• display a significant reduction in the number of myofibrils and lack of lateral myofibrillar registration (J:48839)
• deformation of Z lines (J:48839)
• deformation of Z lines (J:48839)
• signs of sarcomere degradation (J:48839)
• signs of sarcomere degradation (J:48839)
• seen in older mice (8-9 months) (J:48839)
• seen in older mice (8-9 months) (J:48839)
• at 7-9 months of age, homozygotes show obvious signs of muscle weakness and muscle wasting (J:48839)
• by 16-18 months, homozygotes exhibit a severe lower back muscle wasting and anterior muscle wasting (J:48839)
• at 7-9 months of age, homozygotes show obvious signs of muscle weakness and muscle wasting (J:48839)
• by 16-18 months, homozygotes exhibit a severe lower back muscle wasting and anterior muscle wasting (J:48839)
• develop a progressive muscle wasting disorder with clinical features of glycogen storage disease II; average age of onset is 7.1 months for females and 8.1 months for males (J:76435)
• develop a progressive muscle wasting disorder with clinical features of glycogen storage disease II; average age of onset is 7.1 months for females and 8.1 months for males (J:76435)

cardiovascular system

cellular
• at >3 weeks of age, cardiac and skeletal muscle lysosomes increase in size and number, and display increased density of accumulated glycogen particles (J:48839)
• at >3 weeks of age, some cardiac and skeletal muscle lysosomes appear broken, suggesting that leakage of lysosomal proteases may contribute to the damage of muscle structure (J:48839)
• at >3 weeks of age, cardiac and skeletal muscle lysosomes increase in size and number, and display increased density of accumulated glycogen particles (J:48839)
• at >3 weeks of age, some cardiac and skeletal muscle lysosomes appear broken, suggesting that leakage of lysosomal proteases may contribute to the damage of muscle structure (J:48839)

homeostasis/metabolism
• accumulation of lysosomal glycogen in the heart (J:48839)
• accumulation of lysosomal glycogen in the heart (J:48839)
• massive accumulation of glycogen in heart and brain (J:76435)
• massive accumulation of glycogen in heart and brain (J:76435)
• accumulation of lysosomal glycogen in skeletal muscle (J:48839)
• accumulation of lysosomal glycogen in skeletal muscle (J:48839)
• in contrast to frozen quadricep muscles from wild-type mice which contain very little glycogen and >50% of their glycogen phosphorylase is in the form of phosphorylase-a (Ph-a), quadricep muscles from homozygous mutant mice have little or no Ph-a activity and contain 20 times or more glycogen (J:73924)
• in contrast to frozen quadricep muscles from wild-type mice which contain very little glycogen and >50% of their glycogen phosphorylase is in the form of phosphorylase-a (Ph-a), quadricep muscles from homozygous mutant mice have little or no Ph-a activity and contain 20 times or more glycogen (J:73924)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)

skeleton
• by 16-18 months, homozygous mutant mice exhibit a striking kyphosis (J:76435)
• by 16-18 months, homozygous mutant mice exhibit a striking kyphosis (J:76435)

Mouse Models of Human Disease
OMIM ID Ref(s)
Glycogen Storage Disease II; GSD2 232300 J:48839 , J:76435


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory