Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1tm1Jdh mutation
(1 available);
any
Mbtps1 mutation
(72 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation
(2 available)
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growth/size/body
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• heterozygous mice are smaller than wild-type or recombinase expressing controls but larger than homozygous mice
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skeleton
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• smaller appendicular elements, intermediate to homozygous mice
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• smaller axial elements, intermediate to homozygous mice
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• mid-diaphyseal cortical bone is smaller in width but not reduced in thickness
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• osteogenic capacity of bone marrow stem cells is absent in vitro
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1tm1Jdh mutation
(1 available);
any
Mbtps1 mutation
(72 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation
(2 available)
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cellular
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• at P7 in the epiphyseal cartilage
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growth/size/body
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• dwarfed mice with fragile bones
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hematopoietic system
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• decrease in the ability of bone marrow stem cells to form colony-forming unit-fibroblasts
• dramatic decrease in the number of mesenchymal-derived skeletal stem cells
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skeleton
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• at P7 in the epiphyseal cartilage
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• smaller appendicular elements
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• varying degrees of scoliosis that can be severe and is seen as early as 7-10 days of age
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• in trabecular and cortical bone at P7
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• decreased bone volume fraction at P7
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• decrease in bone volume fraction
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• mid-diaphyseal cortical bone is smaller in width with thinner cortical bone
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• decreased on the endosteal surface of the cortical bone
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• at E15.5 and E16.5 in endochondral bone only cartilage is seen where the primary ossification center would normally be with no sign of vascular invasion
• dramatic decrease in the number of mesenchymal-derived skeletal stem cells in the bone marrow
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• osteogenic capacity of bone marrow stem cells is absent in vitro
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• decrease in bone mineral apposition rate and bone formation rate/bone surface
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• at E15.5 and E16.5 only cartilage is seen where the primary ossification center would normally be with no sign of vascular invasion
• at P7 and P10, the secondary ossification center in the epiphyseal cartilage is absent
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• drastic reduction in pMOI (a measure of resistance to torsional force)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1tm1Jdh mutation
(1 available);
any
Mbtps1 mutation
(72 available)
Tg(Mx1-cre)29-4Her mutation
(0 available)
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homeostasis/metabolism
digestive/alimentary system
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• following administration of pIpC, lipid clearance from the plasma is decreased compared to in similarly treated wild-type mice
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liver/biliary system
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• following administration of pIpC
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1tm1Jdh mutation
(1 available);
any
Mbtps1 mutation
(72 available)
Tg(Col2a1-cre)1Bhr mutation
(3 available)
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Severe chondrodysplasia in Mbtps1tm1Jdh/Mbtps1tm1Jdh Tg(Col2a1-cre)1Bhr/0 mice
mortality/aging
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• mice die during or shortly after birth
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skeleton
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• all skeletal elements are smaller than in wild-type mice
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• the chondro-cranial base is shortened compared to in wild-type mice
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• at E14.5, endochondral chondrocytes fail to exhibit a change from proliferation to hypertrophic cells unlike in wild-type mice
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• at E15.5, mice lack an organized hypertrophic zone unlike wild-type mice
• differentiation of hypertrophic chonndrocytes is incomplete
• chondrocytes exhibit abnormal mineralization that precludes vascularization of skeletal elements
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• the skull bones exhibit increased sensitivity to potassium hydroxide compared to wild-type bones
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• mice exhibit abnomal mineralization of hypertrophic chondrocytes in long bones that is associated with increased chondrocyte apoptosis unlike in wild-type mice
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growth/size/body
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• mice are born with protruding tongues
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• mice are small at birth
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• the chest cavity is small and compresses the internal organs into the abdominal cavity unlike in wild-type mice
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craniofacial
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• the chondro-cranial base is shortened compared to in wild-type mice
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• mice are born with protruding tongues
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digestive/alimentary system
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• mice are born with protruding tongues
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limbs/digits/tail
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• the orientation of the limbs is skewed likely due to abnormal articular joint development
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Analysis Tools