MPSII KO mice have a neo cassette replacing exon 4 and part of exon 5 of the X-linked iduronate 2-sulfatase (Ids) gene, abolishing gene expression. Lysosomal accumulation of glycosaminoglycans (GAG) causes chronic and progressive cell and tissue damage leading to organ dysfunction as seen in a group of disorders called mucopolysaccharidoses (MPSs). MPSII, also known as Hunter syndrome, is an X-linked error of metabolism that is specifically caused by a deficiency in IDS, a lysozomal enzyme responsible for the catabolism and removal of dermatan and heparan sulfate GAGs. Heterozygous females are viable and fertile. Hemizygous males show progressive onset of skeletal and neurological disease by three months of age and die by 60-70 weeks of age due to secondary CNS disease. Urinary GAG levels are four-fold higher in these KO mice by 6 weeks of age. GAG accumulation is evident in the liver, kidney, lung, spleen, skeletal muscle, and heart. At 60 weeks, tissue vacuolization is wide spread, including heart valves, testes and cerebellar neurons. Neuronal necrosis of the brainstem and spinal cord are also evident. Skeletal abnormalities, such as thickened digits, swollen hocks, and distorted craniofacial bones, are evident, and KO mice are significantly smaller than wildtype littermates by 10 weeks of age. These mice exhibit alopecia, and they perform poorly in open-field tests and have severely compromised walking patterns. Homozygous mice are perinatal lethal.

MPSII KO mice may be useful for studying and developing potential therapies for treating Hunter syndrome.

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