PPCA- mice carry a targeted knock-out allele of the mouse Ctsa (cathepsin A) gene and serve as a model of galactosialidosis, which is characterized by primary deficiency of cathepsin A and secondary severe deficiency of neuraminidase 1 (NEU1) and partial deficiency (15-20%) of beta-galactosidase (&beta;-GAL). Ctsa transcript is undetected by Northern blot analysis of homozygous mutant mice. Homozygous mice deficient for the protective protein cathepsin A (PPCA) have a clinical and pathological presentation that closely recapitulates the early onset forms of galactosialidosis. Tissues and cells isolated from homozygous mice have no cathepsin A activity and a severe secondary deficiency of NEU1, but &beta;-gal activity tends to increase in tissues as the animals age. Extensive morphological changes in homozygotes are recognizable at birth (if not in utero), with severe vacuolation and lysosomal expansion in some cells of most systemic organs and the central and peripheral nervous system. As the disease primarily affects the reticuloendothelial system, pathologic changes are first detected in tissues and organs of epithelial origin. Similar to patients with the severe form of the disease, mutant mice present with severe early‐onset nephropathy, associated with edema and proteinuria, in addition to oligosacchariduria. Time‐dependent splenomegaly and heart involvement are also characteristic features of the disease. Homozygous males are infertile due to structural changes in the blood-epididymal barrier, resulting in altered sperm motility. Homozygous females may be bred at a very early age, but the donating laboratory recommends heterozygous breedings to maintain a colony. Homozygous lifespan is approximately 6-9 months and the mice are small in size throughout their lives.

PPCA- mice carry a targeted knock-out allele of the mouse Ctsa (cathepsin A) gene and serve as a model of galactosialidosis, which is characterized by primary deficiency of cathepsin A and secondary severe deficiency of neuraminidase 1 (NEU1) and partial deficiency (15-20%) of beta-galactosidase (&beta;-GAL).

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