Mouse Genome Informatics
hm
    Gaatm2Rabn/Gaatm2Rabn
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 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 heart and brain
• massive accumulation of glycogen in skeletal muscle and diaphragm

skeleton
• progressive development of profound kyphosis

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