growth/size/body
• exhibit a deficiency in inter-radicular and alveolar bone heights
|
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
|
malocclusion
(
J:117870
)
• show lack of normal occlusion and an enhanced open bite
|
• Background Sensitivity: exhibit decreased body weight on the 129S4 background compared to a C57BL/6J background
• weights are about 30% less than in wild-type at 4 weeks of age
|
• short stature
|
• grow more slowly than wild-type
|
skeleton
• Background Sensitivity: develop pycnodysostosis on the 129S4 background but not on a C57BL/6J background
|
• show separated cranial sutures with open fontanelles at 6 weeks of age
|
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
|
• show separated cranial sutures with open fontanelles at 6 weeks of age
|
• thin calvariae bones
|
• exhibit reduced jawbone trabeculation
|
• exhibit a deficiency in inter-radicular and alveolar bone heights
|
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
|
malocclusion
(
J:117870
)
• show lack of normal occlusion and an enhanced open bite
|
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts
|
• distal phalanges are thin and exhibit acroosteolysis
|
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices
|
• spondylolysis in the vertebrae
|
• bone volume/total volume is about 3-fold higher in trabecular bone
|
• bone volume/total volume is about 2-3 fold lower in bone other than trabecular bone
|
• Background Sensitivity: severe osteopetrosis on the 129S4 background
|
• Background Sensitivity: on the 129S4 background, develop pycnodysostosis, a disorder in which both osteolysis and osteopetrosis occurs in the same organism
|
• bone resorption is down-regulated in the long bones (osteopetrosis) and is up-regulated in calvariae, phalanges, and vertebrae (osteolysis)
|
• exhibit bone fragility
|
limbs/digits/tail
• distal phalanges are thin and exhibit acroosteolysis
|
• exhibit acroosteolysis
|
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices
|
craniofacial
• show separated cranial sutures with open fontanelles at 6 weeks of age
|
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
|
• show separated cranial sutures with open fontanelles at 6 weeks of age
|
• thin calvariae bones
|
• exhibit reduced jawbone trabeculation
|
• exhibit a deficiency in inter-radicular and alveolar bone heights
|
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
|
malocclusion
(
J:117870
)
• show lack of normal occlusion and an enhanced open bite
|
hematopoietic system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts
|
immune system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts
|