Mouse Genome Informatics
hm
    Gaatm1.1Rabn/Gaatm1.1Rabn
involves: 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• accumulation of lysosomal glycogen in heart (J:48839)
• massive accumulation of glycogen in heart and brain (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 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 IDRef(s)
Glycogen Storage Disease II; GSD2 232300 J:76435