Analysis Tools
mortality/aging
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• overall survival of mice is poor, although mice can grow up to 6-8 weeks in the presence of lactating females
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growth/size/body
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• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
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absent teeth
(
J:289051
)
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• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth
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• by 4 weeks of age
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• by 4 weeks of age
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• by 4 weeks of age
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• mice show growth retardation after around 2 weeks of age, showing lags in body weight and length by 4 weeks of age
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skeleton
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• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
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absent teeth
(
J:289051
)
|
• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth
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• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
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• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
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• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification
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• some mice develop mandibular osteomyelitis, involving the osteopetrotic bone and surrounding soft tissues
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• femurs are shorter, deformed, and display a pockmarked appearance at the cortical bone surface
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• femurs show reduced cortical thickness
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• bone mineral density is moderately reduced
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• femurs show reduced cortical mineral density
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• bone exhibits reduced numbers of osteoblasts per unit bone surface area
• however, bones contain normal numbers of osteocytes and osteoblasts exhibit similar mineralization rates in vitro as wild-type osteoblasts
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• proximal tibias show massively increased amounts of trabecular bone and reduced bone marrow space
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• the number of trabeculae per unit of bone volume is increased
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• the bone marrow cavity is completely replaced by bone
• femurs exhibit the autosomal recessive osteopetrosis Erlenmeyer flask shape
• mice exhibit massive osteopetrosis, which is also seen in most skull bones
• however, gastric pH and stomach appearance are normal, and circulating levels of calcium and PTH are normal indicating that mice are not rachitic
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• massive osteopetrosis and inactive osteoclasts, and normal bone formation rates indicate that osteopetrosis is due to reduced bone resorption
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craniofacial
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• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
|
absent teeth
(
J:289051
)
|
• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth
|
hematopoietic system
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• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
|
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• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
|
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• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification
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homeostasis/metabolism
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• mice exhibit elevated levels of plasma collagen type-I cross-linked C-terminal telopeptides
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• reduction in levels of circulating 25(OH)-vitamin D
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immune system
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• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
|
|
• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
|
|
• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification
|
|
• some mice develop mandibular osteomyelitis, involving the osteopetrotic bone and surrounding soft tissues
|
limbs/digits/tail
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• femurs are shorter, deformed, and display a pockmarked appearance at the cortical bone surface
|
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• femurs show reduced cortical thickness
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive osteopetrosis 8 | DOID:0110940 |
OMIM:615085 |
J:289051 | |
