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Phenotypes Associated with This Genotype
Genotype
MGI:3624424
Allelic
Composition
Gaatm1.1Rabn/Gaatm1.1Rabn
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1.1Rabn mutation (0 available); any Gaa mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaatm1.1Rabn/Gaatm1.1Rabn mice

behavior/neurological
• older mice have an abnormal waddling gait

homeostasis/metabolism
• massive accumulation of glycogen in brain
• accumulation of lysosomal glycogen in heart (J:48839)
• massive accumulation of glycogen in heart (J:76435)
• accumulation of lysosomal glycogen in skeletal muscle, and diaphragm (J:48839)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)

muscle
• accumulation of lysosomal glycogen in heart (J:48839)
• massive accumulation of glycogen in heart (J:76435)
• accumulation of lysosomal glycogen in skeletal muscle, and diaphragm (J:48839)
• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)
• seen in older mice
• develop a progressive muscle wasting disorder with clinical features of glycogen storage disease II, however onset is substantially later and progression is slower than in single homozygous Gaatm1Rabn or Gaatm2Rabn mice
• average age of onset is 9 months for females and 9.8 months for males

skeleton
• progressive development of 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
11/22/2016
MGI 6.06
The Jackson Laboratory