growth/size/body
• dwarfism
• 21 day old mice fed a high phosphate diet for 4 weeks show a partial reversal of the dwarfism
|
hematopoietic system
• osteoclast number/bone surface is increased by 190% in L3 vertebrae
|
homeostasis/metabolism
• 86% increase in serum parathyroid hormone levels
• however, no difference in serum 1,25-(OH2)-vitamin D levels which could be considered low in the presence of hypophosphatemia and increased parathyroid hormone levels
|
• low serum phosphate levels
• however, serum calcium levels are normal
• mice fed a high phosphate diet for 4 weeks show an increase in serum phosphate levels
|
• serum FGF23 levels are increased on a normal diet and further increased after feeding a high phosphate diet
|
• serum c-terminal telopeptide of type 1 collagen levels are higher, indicating bone resorption
|
• urinary phosphate/g creatinine is increased by 71%
|
immune system
• osteoclast number/bone surface is increased by 190% in L3 vertebrae
|
• 18 month old mice exhibit joint destruction, characterized by osteophyte formation, sclerotic bone development, and narrowing of the patellofemoral space
• knees show pitting, erosion, and deterioration, with increased intensity with age
|
limbs/digits/tail
• 2 month old knee joints show flattening of the tibial plateau and thinning of femoral subchondral bone is seen in 2 and 8 month old knee joints
|
short femur
(
J:159949
)
|
skeleton
• osteoclast number/bone surface is increased by 190% in L3 vertebrae
|
• 18 month old mice exhibit joint destruction, characterized by osteophyte formation, sclerotic bone development, and narrowing of the patellofemoral space
• knees show pitting, erosion, and deterioration, with increased intensity with age
|
• 2 month old knee joints show flattening of the tibial plateau and thinning of femoral subchondral bone is seen in 2 and 8 month old knee joints
|
• mice show a widened and largely disorganized growth plate
|
• epiphyses of 8 month old mice show modifications of the trabecular architecture
• the bone volume/total volume of the epiphysis is decreased in both the femur and tibia by 35% and 11%, respectively, at 2 months of age and by 42% and 27%
|
• shortened misshaped hypolucent bones
|
short femur
(
J:159949
)
|
• bone mineral density of the L3 vertebra is decreased by 13%
• mice fed a high phosphate diet for 4 weeks show increased bone mineral density to normal levels
|
• bone mineral content is decreased by 26%
• mice fed a high phosphate diet for 4 weeks show increased bone mineral content to normal levels
|
• bone volume/total volume is decreased by 72%
• 60% reduction in bone volume/total volume in the L3 vertebrae
|
• platelike structure of the trabecular bone is decreased
|
(J:159949)
• femur shows a 17% and 25% decrease in trabecular number at 2 months and 8 months of age, respectively
(J:240777)
|
(J:159949)
• femur shows a 16% and 32% increase in trabecular spacing at 2 months and 8 months of age, respectively
(J:240777)
|
• trabecular thickness is decreased by 15%
(J:159949)
• trabecular thickness of the epiphysis is decreased in the femur and tibia by 16% and 11%, respectively, at 2 months of age
(J:240777)
|
• decreased bone mass is due to both decreased bone formation and increased bone resorption
|
osteophytes
(
J:240777
)
• osteophyte formation, mainly on the posterior tibiae, is seen in 8 month old knee joints and osteophytes are present in 18 month old knees
|
• mice exhibit a decrease in articular cartilage thickness and proteoglycan content in knees
• tibial articular cartilage thickness is decreased by 56% and 62% in 8 month and 18 month old mice, respectively
|
• the mineral apposition rate is decreased by 14% in L3 vertebrae
• L3 vertebrae show decreased mineralized trabeculae
|
osteomalacia
(
J:159949
)
|
• osteoblast surface/bone surface is reduced by 54% in L3 vertebrae
• mineralizing surface/bone surface, bone formation rate/bone surface, and interlabel thickness are decreased by 23, 27, and 14%, respectively, in L3 vertebrae
|
• osteoclast surface is increased by 179% in L3 vertebrae
• serum c-terminal telopeptide of type 1 collagen levels are higher, indicating bone resorption
|
renal/urinary system
• urinary phosphate/g creatinine is increased by 71%
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
X-linked dominant hypophosphatemic rickets | DOID:0050445 |
OMIM:307800 |
J:240777 |