Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Iduatm1Clk mutation
(3 available);
any
Idua mutation
(40 available)
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mortality/aging
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• only 21% of males and 40% of females live past 12 months of age
• the median survival age for males is 32 weeks and for females 48 weeks
• the rapid loss of male mice starts around 7 months of age and for females at 9 months of age
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growth/size/body
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• body weight of mice becomes significantly greater than controls at 11 weeks of age for females and 14 weeks of age for males
• mice remain heavier for at 34 weeks of age
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behavior/neurological
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• mice have less habituation to an open field as determined by less decrease in locomotor activity on the third exposure compared to the first
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• 4-month old mice take longer than controls to reach a hidden platform in a morris water maze
• differences were not observed at 2, 6, and 8 months of age
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• mice at 4 or 8 months of age swim further away from target than controls both 1 day and 7 days after last learning session in a morris water maze
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• 8 month old males bury fewer marblesthan controls, which is suggestive of increased anxiety
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• control mice 8 months of age spent 66% of the time exploring a novel object whereas the mutant mice only spent 54% of the time exploring the novel object
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• 61.0% of mutant mice do no react to an acoustic startle compared to 9.7% of control mice that do not react
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• mice have decreased horizontal activity when placed into a new environment
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homeostasis/metabolism
renal/urinary system
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• urinary secretion of glycosaminoglycans is 4- to 20-fold higher than controls regardless of age
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Iduatm1Clk mutation
(3 available);
any
Idua mutation
(40 available)
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respiratory system
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• protruding nasal bridge
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mortality/aging
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• early deaths beginning around 25 weeks of age
• average life span around 48 weeks
• all homozygotes dead by 85 weeks
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growth/size/body
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• broadening of face beginning around 4 weeks of age
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• protruding nasal bridge
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• normal growth until about 30 weeks of age after which time growth slows considerably
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craniofacial
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• broadening of face beginning around 4 weeks of age
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• protruding nasal bridge
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limbs/digits/tail
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• hip dislocation in some older mice
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• tibial growth plate thickened at 6 weeks of age
• increased numbers of chondrocytes
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skeleton
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• hip dislocation in some older mice
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• irregular primary trabeculae
• retained cartilage with ossified bone
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• tibial growth plate thickened at 6 weeks of age
• increased numbers of chondrocytes
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• hypertrophic zone somewhat disorganized
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• increased thickness
(J:39522)
• flaring of anterior end of ribs and general widening
(J:47999)
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• thoracic kyphosis apparent at 57 weeks of age
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• lysosomal storage in chondrocytes of articular surfaces and trachea beginning around 4 weeks of age
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behavior/neurological
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• dragging of hind quarters
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• declining mobility with age
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cellular
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• abnormal lysosomal storage in all tissues examined particularly the reticuloendothelial system
• 15-20% of hepatocyte cytoplasm taken up by lysosomes by 8 weeks of age
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nervous system
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• cytoplasmic vacuolation seen in neurons of the cerebral cortex at 8 weeks of age
(J:39522)
• increased ganglioside levels
(J:47999)
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• cytoplasmic vacuolation seen at 8 weeks of age
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• progressive loss of Purkinje cells with age
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liver/biliary system
homeostasis/metabolism
vision/eye
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• thickened periorbital tissue sometimes causes partial closure of eyes
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cardiovascular system
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• sometimes observed on autopsy after death
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renal/urinary system
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• 3 fold increase in excretion of glycosaminoglycan
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integument
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Iduatm1Clk mutation
(3 available);
any
Idua mutation
(40 available)
|
|
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craniofacial
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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hearing/vestibular/ear
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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vision/eye
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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integument
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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growth/size/body
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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• this feature distinguishes mice from wild-type controls but is not as severe as observed in homozygotes
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reproductive system
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• matings between homozygote females and heterozygote males are unsuccessful
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behavior/neurological
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• mice trained on a rotating rod have decreased times of latency in subsequent tests compared to controls
• males have more deficient motor learning than females
• for females, there was some improvement in times of latency at all speeds though never to the degree seen for controls
• training failed to improve time of latency for males at the highest speed tested
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• mice have decreased times of latency in rotarod tests
• males have worse impairment than females
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• mothers often cannibalize their offspring
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craniofacial
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• mice have thickening of the zygomatic bone
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• mice have a short snout that is more evident in females
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• mice have broad head that is more evident in females
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• mice have small ears that is more evident in females
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hearing/vestibular/ear
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• mice have small ears that is more evident in females
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homeostasis/metabolism
nervous system
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• ganglioside accumulations are observed
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• high ganglioside accumulations are observed
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• high ganglioside accumulations are observed
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• ganglioside accumulations are observed
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• ganglioside accumulations are observed
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• ganglioside accumulations are observed
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renal/urinary system
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• urinary excretion of glycosaminoglycans is 6.5-fold higher than in controls
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skeleton
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• mice have thickening of the zygomatic bone
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vision/eye
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• mice have a short snout that is more evident in females
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integument
growth/size/body
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• mice have a short snout that is more evident in females
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• mice have broad head that is more evident in females
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• mice have small ears that is more evident in females
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