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Phenotypes Associated with This Genotype
Genotype
MGI:3624423
Allelic
Composition
Gaatm2Rabn/Gaatm2Rabn
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm2Rabn mutation (0 available); any Gaa mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severely impaired on a rotarod at 8-11 months of age
• exhibit signs of reduced activity in an open field environment at 4-6 months of age
• observe waddling gait by 7-9 moths of age
• by 16-18 months of age, exhibit near paralysis of the hind limbs leading to abnormal posture of hind limbs

muscle
• massive accumulation of glycogen in heart
• massive accumulation of glycogen in skeletal muscle and diaphragm
• observe muscle weakness by 7-9 months of age that progresses with age
• develop a progressive muscle wasting disorder with clinical features of glycogen storage disease II; average age of onset is 6.6 months for females and 8.3 months for males

cardiovascular system

homeostasis/metabolism
• massive accumulation of glycogen in brain
• massive accumulation of glycogen in heart
• massive accumulation of glycogen in skeletal muscle and diaphragm

skeleton
• progressive development of profound kyphosis

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory