Analysis Tools
growth/size/body
short snout
(
J:93981
)
craniofacial
short snout
(
J:93981
)
endocrine/exocrine glands
|
• parathyroids become progressively enlarged over time
|
|
• secondary hyperparathyroidism
|
hematopoietic system
homeostasis/metabolism
|
• serum calcium levels are slightly diminished
|
|
• urinary calcium excretion is decreased, indicating increased renal tubular calcium reabsorption in response to circulating parathyroid hormone (PTH)
|
|
• urinary calcium excretion is decreased, indicating increased renal tubular calcium reabsorption in response to circulating parathyroid hormone (PTH)
|
|
• decrease in renal tubular reabsorption of phosphate
|
|
• low serum levels of 1,25-dihydroxyvitamin D3
|
|
• increase in serum alkaline phosphatase activity
|
immune system
enthesitis
(
J:192371
)
|
• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projections at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles insertion into the posterior and medial processes of the calcaneus at 12 weeks of age
• mutants exhibit mineralizing enthesopathy of plantar facial insertion (abnormal bony projections at the attachment of the ligament) as indicated by an expansion of type II collagen expressing fibrochondrocytes at the plantar fascia ligament attachment
|
limbs/digits/tail
short tail
(
J:93981
)
renal/urinary system
|
• urinary calcium excretion is decreased, indicating increased renal tubular calcium reabsorption in response to circulating parathyroid hormone (PTH)
|
|
• urinary calcium excretion is decreased, indicating increased renal tubular calcium reabsorption in response to circulating parathyroid hormone (PTH)
|
|
• decrease in renal tubular reabsorption of phosphate
|
skeleton
enthesitis
(
J:192371
)
|
• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projections at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles insertion into the posterior and medial processes of the calcaneus at 12 weeks of age
• mutants exhibit mineralizing enthesopathy of plantar facial insertion (abnormal bony projections at the attachment of the ligament) as indicated by an expansion of type II collagen expressing fibrochondrocytes at the plantar fascia ligament attachment
|
|
• mutants exhibit a round back
|
|
• trabecular volume is increased, however mineralized trabeculae are much less numerous than in wild-type mice
|
|
• expansion of fibrochondrocytes (type II collagen expressing, showing alkaline phosphatase activity, and proteoglycan-secreting fibrochondrocytes) at the Achilles and plantar facial insertions
|
|
• expanded calcification of the entheses during the period of long bone growth
|
|
• growth plates are wider, more disorganized and less well mineralized, consistent with advanced rickets
|
|
• mutants exhibit significant unmineralized osteoid bone
|
|
• tibias of 1-2 month old mutants show wider, unmineralized growth plate and epiphyseal region of femurs show reduced mineralization
|
osteomalacia
(
J:93981
)
|
• osteomalacic changes are seen in trabecular and cortical bone due to increased amounts of unmineralized osteoid
• growth plates are wider, more disorganized and less well mineralized, consistent with advanced rickets
|
|
• low osteoclast number and the persistence of aggrecan expression and chondrocytes in the bone trabeculae indicating diminished bone resorption
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal dominant hypophosphatemic rickets | DOID:0050948 |
OMIM:193100 |
J:93981 | |
| autosomal recessive hypophosphatemic rickets | DOID:0050949 |
OMIM:241520 OMIM:613312 |
J:192371 | |
| X-linked dominant hypophosphatemic rickets | DOID:0050445 |
OMIM:307800 |
J:93981 | |
