cellular
|
• decreased apoptotic chondrocytes at chondro-osseous junctions
|
growth/size/body
|
• normal size at birth
• size decrease detectable by 3 weeks of age
|
|
• square, shortened body
|
|
• more severe dwarfism than females
• develops after weaning
|
limbs/digits/tail
|
• shortened hind limbs
|
|
• tails grow slowly
|
short tail
(
J:136463
)
|
• tail 70% normal
|
skeleton
|
• decreased apoptotic chondrocytes at chondro-osseous junctions
|
|
• reduced length of most bones in the body
|
|
• distribution and differentiation normal at E18.5 in the tibia
• expanded hypertrophic chondrocyte layer at day 4 in the tibia
• widened and irregular growth plates in tibias at day 40
|
|
• detectable radiographically by 8 weeks of age
• lower bone mineral density
• osteopenia involving the whole skeleton but particularly the vertebrae
|
|
• increased trabecular bone volume
|
homeostasis/metabolism
|
• slightly lowered serum calcium levels
|
|
• reduced serum levels
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
X-linked dominant hypophosphatemic rickets | DOID:0050445 |
OMIM:307800 |
J:136463 |