Phenotypes Associated with This Genotype

Genotype
MGI:3624424

• Allelic Composition: Gaa^tm1.1Rabn/Gaa^tm1.1Rabn
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * FVB/N

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

Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaa^tm1.1Rabn/Gaa^tm1.1Rabn mice

behavior/neurological

abnormal gait ( J:76435 )

• older mice have an abnormal waddling gait

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:48839 , J:76435 )

• accumulation of lysosomal glycogen in heart (J:48839)

• massive accumulation of glycogen in heart (J:76435)

increased brain glycogen level ( J:76435 )

• massive accumulation of glycogen in brain

increased skeletal muscle glycogen level ( J:48839 , 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

increased cardiac muscle glycogen level ( J:48839 , J:76435 )

• accumulation of lysosomal glycogen in heart (J:48839)

• massive accumulation of glycogen in heart (J:76435)

increased skeletal muscle glycogen level ( J:48839 , J:76435 )

• accumulation of lysosomal glycogen in skeletal muscle, and diaphragm (J:48839)

• massive accumulation of glycogen in skeletal muscle and diaphragm (J:76435)

progressive muscle weakness ( J:76435 )

• seen in older mice

myopathy ( J:76435 )

• 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 Gaa^tm1Rabn or Gaa^tm2Rabn mice

• average age of onset is 9 months for females and 9.8 months for males

skeleton

kyphosis ( J:76435 )

• progressive development of kyphosis

cardiovascular system

increased cardiac muscle glycogen level ( J:48839 , J:76435 )

• accumulation of lysosomal glycogen in heart (J:48839)

• massive accumulation of glycogen in heart (J:76435)

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