Analysis Tools
mortality/aging
|
• affected mice are not viable beyond 5 weeks of age and have to be culled before puberty due to poor health
|
growth/size/body
|
• affected mice are smaller at 3 weeks of age
• generalized reduction of soft tissue mass
|
behavior/neurological
|
• all affected mice exhibit a negative Preyer reflex, indicating a hearing deficit
|
|
• hunched posture at 3 weeks of age
|
homeostasis/metabolism
 |
• at ~5 weeks of age, female mice show significantly lower plasma glucose concentrations than wild-type females
|
|
• significantly increased plasma concentrations of phosphate in both sexes at ~5 weeks of age
• however, plasma calcium concentrations are normal
|
|
• significantly increased plasma intact FGF23 (fibroblast growth factor 23) concentrations in both sexes, with values above the upper limit of assay detection
|
 |
• at ~5 weeks of age, male mice show significantly lower plasma albumin concentrations than wild-type males
|
calcinosis
(
J:229255
)
|
• widespread ectopic calcification at 5 weeks of age
|
|
• significantly increased plasma concentrations of 1,25 dihydroxyvitamin D in both sexes, consistent with a 6-fold increase in expression of vitamin D-1alpha-hydroxylase (Cyp27b1) relative to wild-type controls
|
|
• significantly increased alkaline phosphatase activity in both sexes at ~5 weeks of age
|
hearing/vestibular/ear
|
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
|
|
• ectopic calcification in the incus at 5 weeks of age
|
|
• ectopic calcification in the malleus at 5 weeks of age
|
|
• shortening and thickening of the manubrium at 5 weeks of age
|
|
• at 5 weeks of age
|
|
• shorter malleus at 5 weeks of age
|
|
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age
|
skeleton
|
• thickened, widened zygomatic arches
|
|
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
|
|
• ectopic calcification in the incus at 5 weeks of age
|
|
• ectopic calcification in the malleus at 5 weeks of age
|
|
• shortening and thickening of the manubrium at 5 weeks of age
|
|
• at 5 weeks of age
|
|
• shorter malleus at 5 weeks of age
|
|
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age
|
|
• shortened and radiolucent femora with cortical thinning
|
short femur
(
J:229255
)
|
• ~45% reduction in the width of the proliferative epiphyseal zones in the proximal tibiae at 5 weeks of age
|
|
• ~45% reduction in the width of the hypertrophic epiphyseal zones in the proximal tibiae at 5 weeks of age
|
|
• narrowing of the growth plate region in the proximal tibiae at 5 weeks of age
|
|
• sclerotic ribs at 5 weeks of age
|
|
• flattened vertebra at 5 weeks of age
|
|
• DXA analysis of femora revealed a significant reduction in bone mineral content in both sexes at 5 weeks of age
|
|
• femora exhibit reduced radiodensity and cortical thickness, consistent with osteopenia
• DXA analysis of femora revealed a significant reduction in bone mineral density in both sexes at 5 weeks of age
|
integument
|
• reduced subcutaneous fat thickness at 5 weeks of age
|
|
• reduced epidermal thickness at 5 weeks of age
|
|
• skin calcification leading to reduced thickness of the epidermal and subcutaneous fat skin layers
|
skin atrophy
(
J:229255
)
|
• skin atrophy at 5 weeks of age
|
cardiovascular system
|
• extensive aortic calcification leading to an irregular aortic lumen with widening of the medial and adventitial wall layers
|
|
• patchy opacifications within the aorta
• extensive aortic calcification leading to vessel occlusion at 5 weeks of age
|
respiratory system
|
• regions of dense calcification within the lungs associated with a reduced number of alveoli and inflammatory cell infiltrates at 5 weeks of age
|
renal/urinary system
|
• vascular and parenchymal renal calcification at 5 weeks of age
|
|
• necrotic regions within the renal parenchyma esp. around calcification foci
|
craniofacial
|
• thickened, widened zygomatic arches
|
|
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
|
|
• ectopic calcification in the incus at 5 weeks of age
|
|
• ectopic calcification in the malleus at 5 weeks of age
|
|
• shortening and thickening of the manubrium at 5 weeks of age
|
|
• at 5 weeks of age
|
|
• shorter malleus at 5 weeks of age
|
|
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age
|
adipose tissue
|
• reduced subcutaneous fat thickness at 5 weeks of age
|
limbs/digits/tail
|
• shortened and radiolucent femora with cortical thinning
|
short femur
(
J:229255
)
immune system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hyperphosphatemic familial tumoral calcinosis | DOID:0111063 |
OMIM:211900 |
J:229255 | |
