Analysis Tools
mortality/aging
|
• some homozygous breeding mice, mainly lactating females, die suddenly
|
vision/eye
|
• cataracts consisting of a group of small, opaque dots in the lens nucleus are seen at 4-6 weeks of age; these dots are larger and more numerous than in heterozygotes
|
homeostasis/metabolism
|
• reduced parathyroid hormone levels are seen; however, no abnormalities are seen in the parathyroid glands and serum and urinary magnesium levels are normal
|
|
• female but not male homozygotes display hypocalciuria
|
calcinosis
(
J:92612
)
|
• calcified foci are seen in striated and visceral smooth muscle particularly in the tongue, vibrissa dermal sheath, and blood vessels especially in the testis and kidney
• mineralization is seen in 88% and 97% of homozygotes in the vibrissa dermal sheath and tongue, respectively compared to 33% and 40% in C3H control mice
|
muscle
|
• calcified foci are seen in striated and visceral smooth muscle, particularly in the tongue
|
immune system
|
• localized histiocytic reaction are seen around mineralized foci in the tongue but not in other tissues
|
renal/urinary system
|
• female but not male homozygotes display hypocalciuria
|
|
• calcified foci are seen in blood vessels in the kidney cortex
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal dominant hypocalcemia 1 | DOID:0090107 |
OMIM:601198 |
J:92612 | |
