Analysis Tools
mortality/aging
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• pups exhibit a low survival rate relative to wild-type controls
|
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• birth rate of homozygous mutant pups is only 8.9% versus expected 25%
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growth/size/body
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• adult mice exhibit shortened nasal bones
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short snout
(
J:233671
)
|
• adult mice exhibit shortened noses
|
megacephaly
(
J:233671
)
|
• adult mice exhibit a distinctly larger head than wild-type controls
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• P3 pups and adult mice exhibit a smaller body size than wild-type controls
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• at P3, 4 of 10 mice show a ~30% reduction in body weight relative to wild-type controls
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• mice show development delay
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craniofacial
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• adult mice exhibit skull anomalies
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• at P4, skulls exhibit a significantly wider open frontier suture than wild-type skulls
• at 5 months of age, adult mice display open cranial sutures with obvious gaps along the midline interfrontal suture, transverse coronal and lambdoid sutures
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• adult mice exhibit shortened frontal bones
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• adult mice exhibit shortened nasal bones
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short snout
(
J:233671
)
|
• adult mice exhibit shortened noses
|
skeleton
|
• in culture, primary osteoblasts derived from newborn skulls show severe endoplasmic reticulum Ca2+ mishandling with a significant increase in the average peak area of thapsigargin-induced Ca2+ transients relative to wild-type osteoblasts
|
|
• adult mice exhibit skull anomalies
|
|
• at P4, skulls exhibit a significantly wider open frontier suture than wild-type skulls
• at 5 months of age, adult mice display open cranial sutures with obvious gaps along the midline interfrontal suture, transverse coronal and lambdoid sutures
|
|
• adult mice exhibit shortened frontal bones
|
|
• adult mice exhibit shortened nasal bones
|
|
• at P1, pups show delayed osteogenesis with a significant wider gap between the left and right osteogenic fronts at the sagittal suture and discontinuous osteoid deposition at osteogenic fronts
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nervous system
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• adult mice display significantly enlarged brain ventricles, suggesting mental retardation
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behavior/neurological
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• adult mice exhibit a deficit in spatial recognition memory in a Y-maze task assay, with a significantly shorter relative distance walked and relative time spent in novel arm over start arm than wild-type controls
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• adult mice show a significant reduction in the average latency to fall from an accelerating rotarod relative to wild-type controls
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homeostasis/metabolism
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• in culture, primary osteoblasts derived from newborn skulls exhibit overloading of the endoplasmic reticulum Ca2+ store
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reproductive system
 |
• at 6 months of age, females show loss of developing ovarian follicles
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cellular
|
• in culture, primary osteoblasts derived from newborn skulls show severe endoplasmic reticulum Ca2+ mishandling with a significant increase in the average peak area of thapsigargin-induced Ca2+ transients relative to wild-type osteoblasts
|
endocrine/exocrine glands
|
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• at 6 months of age, females show loss of developing ovarian follicles
|
respiratory system
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• adult mice exhibit shortened nasal bones
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | DOID:0081072 |
OMIM:PS213980 |
J:233671 | |
