Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1.1Teti mutation
(0 available);
any
Clcn7 mutation
(40 available)
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mortality/aging
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• die within 30 days of age
• feeding with soft chow does not improve survival
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growth/size/body
craniofacial
nervous system
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• extensive neurodegeneration in the hippocampal regions and cerebellar cortex
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skeleton
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• mice are severely osteopetrotic
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1.1Teti mutation
(0 available);
any
Clcn7 mutation
(40 available)
|
|
|
mortality/aging
|
• die within 30 days of age
• feeding with soft chow does not improve survival
|
growth/size/body
craniofacial
skeleton
Allelic Composition |
Clcn7tm1.1Teti/Clcn7+
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Genetic Background |
involves: 129S2/SvPas * C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1.1Teti mutation
(0 available);
any
Clcn7 mutation
(40 available)
|
|
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hematopoietic system
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• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
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• osteoclasts show a reduction of resorption pit formation
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homeostasis/metabolism
immune system
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• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
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• osteoclasts show a reduction of resorption pit formation
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nervous system
N |
• mice do not exhibit neurodegeneration in the hippocampus or cerebellar cortex at 1 or 12 months of age
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skeleton
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• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
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• osteoclasts show a reduction of resorption pit formation
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• bone marrow shows increased TRAcP-positive mononuclear osteoclast precursors; when cultured with M-CSF and RANKL, these precursors form a higher number of osteoclasts
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• 3 month old mice have a higher whole body areal bone mineral density
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• 3 month old mice exhibit a greater trabecular bone volume in femur, tibia, and vertebrae
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• 3 month old mice exhibit a lesser trabecular separation
• however, no changes in trabecular thickness are seen
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• increase in bone mass is persistent with time
• females have a lower bone mass and more pronounced bone volume/total tissue volume elevation than males
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• exhibit signs of milder osteopetrosis
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• marker analysis suggests a reduction of bone resorption
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