Phenotypes Associated with This Genotype

Genotype
MGI:3624423

• Allelic Composition: Gaa^tm2Rabn/Gaa^tm2Rabn
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

impaired coordination ( J:76435 )

• severely impaired on a rotarod at 8-11 months of age

abnormal gait ( J:76435 )

• observe waddling gait by 7-9 moths of age

decreased locomotor activity ( J:76435 )

• exhibit signs of reduced activity in an open field environment at 4-6 months of age

hindlimb paralysis ( J:76435 )

• by 16-18 months of age, exhibit near paralysis of the hind limbs leading to abnormal posture of hind limbs

muscle

increased cardiac muscle glycogen level ( J:76435 )

• massive accumulation of glycogen in heart

cardiomyopathy ( J:76435 )

increased skeletal muscle glycogen level ( J:76435 )

• massive accumulation of glycogen in skeletal muscle and diaphragm

progressive muscle weakness ( J:76435 )

• observe muscle weakness by 7-9 months of age that progresses with age

myopathy ( 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

cardiovascular system

increased cardiac muscle glycogen level ( J:76435 )

• massive accumulation of glycogen in heart

cardiomyopathy ( J:76435 )

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:76435 )

• massive accumulation of glycogen in heart

increased brain glycogen level ( J:76435 )

• massive accumulation of glycogen in brain

increased skeletal muscle glycogen level ( J:76435 )

• massive accumulation of glycogen in skeletal muscle and diaphragm

skeleton

kyphosis ( J:76435 )

• progressive development of profound kyphosis

nervous system

increased brain glycogen level ( J:76435 )

• massive accumulation of glycogen in brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease II		DOID:2752	OMIM:232300	J:76435