Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), &quot;pug type&quot; appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. These mice have the H2b haplotype typical of inbred C57BL/6 mice. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases.

These mice carry a spontaneous intragenic deletion in the Gusb gene resulting in the failure to express the lysosomal enzyme beta glucuronidase. They exhibit various skeletal and connective tissue anomalies and are useful in studies of lysosomal storage diseases.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

Typically mice are recovered in 12-16 weeks. <a target="_blank" href="https://www.jax.org/jax-mice-and-services/customer-support" rel="noreferrer">Contact Customer Service</a> to place an order or for more information.