mortality/aging
|
• affected mice die by 60 - 70 weeks of age
|
cellular
|
• accumulation of glycosaminoglycans is detectable in the liver, spleen, and lung at 1 and 3 days of age and becomes progressively more severe with accumulation in the liver, spleen, lung, heart, kidney, and skeletal muscle at 3 and 9 months of age
(J:108242)
• accumulation of glycosaminoglycans is also seen in the choroid plexus and ventricular regions of the brain
(J:108242)
• accumulation of glycosaminoglycans is seen in the liver, kidney, lung, and heart valves
(J:108761)
• at 4 weeks of age vacuolization of the lymph nodes and synoviocytes in the hindlimbs are seen and at 60 weeks of age widespread vacuolization is seen in many tissues including the heart valves, testes, and cerebellar neurons
(J:108761)
|
growth/size/body
|
(J:108242)
• body weight of aged mice is 37 +/- 3 g compared to 50 +/- 6 g for wild-type mice
(J:108761)
|
behavior/neurological
|
• decreased exploration and more time spent in the margins of an open field
|
|
• slow and uncertain gait, abnormal walking pattern, and non-overlapping anterior and posterior paw prints
• fail to maintain a straight line through a tunnel
|
|
• slower movement in an open field
|
nervous system
|
• cellular vacuolization is seen in the hippocampus, thalamus, cerebellum and brainstem
|
|
• at 60 weeks of age, neuronal necrosis is seen in the brainstem and spinal cord
|
skeleton
|
• defects are caused by lysosomal accumulation of glycosaminoglycans
|
|
• the distance between the base of the ears is increased and the distance between the maxilla and zygoma is decreased
|
|
• synoviocytes in the hindlimbs at 4 weeks of age
• swollen hocks at 10 weeks of age
|
immune system
|
• vacuolization of the lymph nodes at 4 weeks of age
|
limbs/digits/tail
|
(J:108242)
• thickened digits at 10 weeks of age
(J:108761)
|
craniofacial
|
• the distance between the base of the ears is increased and the distance between the maxilla and zygoma is decreased
|
integument
homeostasis/metabolism
|
• synoviocytes in the hindlimbs at 4 weeks of age
• swollen hocks at 10 weeks of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
mucopolysaccharidosis II | DOID:12799 |
OMIM:309900 |
J:108242 , J:108761 |