Analysis Tools
mortality/aging
|
• after about 1 year of age, mice are often found moribund in cages
|
behavior/neurological
|
• at about 40 weeks of age, mice show a decline in activity
|
craniofacial
|
• enlargement of the bones of the skull is seen as early as 4 weeks
|
|
• calvaria sclerosis
|
|
• calvaria enlargement
|
|
• mandible sclerosis
|
|
• zygomatic bones have an 88% larger area resulting from a 39% increased thickness
|
broad snout
(
J:259752
)
|
• by 8 months of age, all affected mice develop broadened snouts
|
endocrine/exocrine glands
growth/size/body
broad snout
(
J:259752
)
|
• by 8 months of age, all affected mice develop broadened snouts
|
|
• mice are slightly smaller at 40 weeks of age
|
|
• mice show an increase in liver weight by 4 weeks of age
|
hematopoietic system
homeostasis/metabolism
|
• GAG concentrations in liver, spleen, kidney, and heart are elevated as early as 7 weeks of age and remain elevated throughout life
• skin, lung, and brain show an about 2-fold increase in GAG level
• GAG content is elevated in a variety of tissues, including, liver, lungs, heart, brain, skeletal muscle, spleen, kidney, skin, and periosteum at 20 weeks of age
|
|
• urine glycosaminoglycan (GAG) excretion is elevated at 4 weeks of age and remains high throughout the lifespan
|
immune system
integument
coarse hair
(
J:259752
)
|
• by 10 weeks of age, mice begin to exhibit coarse fur
|
limbs/digits/tail
|
• by 10 weeks of age, digits appear thickened and are often in a curved or claw position
|
|
• misalignment of the calcaneus (heel) bone
|
|
• by 10 weeks of age, mice begin to exhibit gibbous deformities in their hind limb articulations that impede joint mobility
|
liver/biliary system
|
• mice show an increase in liver weight by 4 weeks of age
|
cellular
|
• elevation in lysosomal activities in a variety of tissues, including liver, heart, lungs, spleen, kidney, and brain
• foamy, vacuolated cell types infiltrate multiple organs and tissues at 4 weeks of age with no dramatic progression with age, suggestive of lysosomal storage material
|
muscle
|
• deformation in tendons is apparent by 39-40 weeks
|
|
• severe calcification of the calcaneus tendon
|
nervous system
|
• neuronal necrosis in the brainstem
|
|
• neuronal necrosis in the spinal cord
|
renal/urinary system
|
• urine glycosaminoglycan (GAG) excretion is elevated at 4 weeks of age and remains high throughout the lifespan
|
|
• distended urinary bladder filled with turbid urine
|
reproductive system
respiratory system
skeleton
|
• severity of skeletal abnormalities is progressive and present in nearly all mice at nearly all sites by 39-40 weeks of age
|
|
• enlargement of the bones of the skull is seen as early as 4 weeks
|
|
• calvaria sclerosis
|
|
• calvaria enlargement
|
|
• mandible sclerosis
|
|
• zygomatic bones have an 88% larger area resulting from a 39% increased thickness
|
|
• deformation in tendons is apparent by 39-40 weeks
|
|
• severe calcification of the calcaneus tendon
|
|
• appendicular bone enlargement is seen at 10-13 weeks
|
|
• misalignment of the calcaneus (heel) bone
|
|
• clavicle enlargement
|
|
• femur diaphyseal enlargement and sclerosis
|
|
• thickened long bones in the hind limbs, ribs, and vertebrae
|
|
• vertebrae enlargement
|
|
• larger bone mineral content in bones
|
|
• 9% increase in whole-body bone mineral density
|
|
• 6%, 25%, and 37.5% of mice at 3, 6, and 12 months, respectively, exhibit a hind limb tibiotarsal joint deformity resulting in ankyloses
• deformation in joints is apparent by 39-40 weeks
|
|
• by 10 weeks of age, mice begin to exhibit gibbous deformities in their hind limb articulations that impede joint mobility
|
|
• severe periosteal bone formation at the lateral aspect of the distal tibia
|
|
• by 10 weeks of age, mice begin to exhibit gibbous deformities in their hind limb articulations that impede joint mobility
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| mucopolysaccharidosis II | DOID:12799 |
OMIM:309900 |
J:259752 | |
