Acid Alpha-Glucosidase Gene (Gaa)

Normal fertility (male & female)
Presence of glycogen-containing lysosomes (liver, heart, skeletal muscle)
Acid phosphatase positive vacuolar spaces
Cardiomegaly
Abnormal EKG

Reference:

Bijvoet AGA, van de Kamp EHM, Kross MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, et al. Generalized gylcogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998 Jan; 7(1):53-62.

METHODOLOGY ( FROM T-BASE)

Gaa (+/-) The mouse Gaa gene encoding acid alpha-glucosidase cDNA (GenBank accession No. U449351) was isolated from a mouse liver cDNA library using human acid alpha-glucosidas....
Gaa (-/-) The mouse Gaa gene encoding acid alpha-glucosidase cDNA (GenBank accession No. U449351) was isolated from a mouse liver cDNA library using human acid alpha-glucosidas....

Database Links

OMIM MEDLINE Citations Protein Links Nucleotide Links Gene Map GDB