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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 (9 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 (J:76435)
• severely impaired on a rotarod at 8-11 months of age (J:76435)
• exhibit signs of reduced activity in an open field environment at 4-6 months of age (J:76435)
• exhibit signs of reduced activity in an open field environment at 4-6 months of age (J:76435)
• observe waddling gait by 7-9 moths of age (J:76435)
• observe waddling gait by 7-9 moths of age (J:76435)
• by 16-18 months of age, exhibit near paralysis of the hind limbs leading to abnormal posture of hind limbs (J:76435)
• by 16-18 months of age, exhibit near paralysis of the hind limbs leading to abnormal posture of hind limbs (J:76435)

muscle
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• observe muscle weakness by 7-9 months of age that progresses with age (J:76435)
• observe muscle weakness by 7-9 months of age that progresses with age (J:76435)
• 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 (J:76435)
• 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 (J:76435)

cardiovascular system

homeostasis/metabolism
• massive accumulation of glycogen in heart and brain (J:76435)
• massive accumulation of glycogen in heart and brain (J:76435)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)

skeleton
• progressive development of profound kyphosis (J:76435)
• progressive development of profound kyphosis (J:76435)

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
02/02/2016
MGI 6.02
The Jackson Laboratory