Analysis Tools
integument
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• there is a significantly reduced percentage of stage 4 follicles in E18.5- E19.0 embryos (23% vs 17% in wild-type controls at E18.5)
• there is also a significant reduction in stage 3 follicles at E19.0 (25% vs. 34%)
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• the mean overall thickness of the skin of E18.5 embryos is 196 microns compared to 252 microns for wild-type embryos
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• there is a 37% reduction of basal epithelial cells that are actively dividing in the skin of E18.5 embyros compared to wild-type embryos
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• the mean thickness of the epidermis of E18.5 embryos is 35 microns which is significantly less than the mean of 43 microns for wild-type embryos
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cellular
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• heterozygotes exhibit neither surface osteoblastic differentiation nor intramembranous bone formation laterally
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craniofacial
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• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures
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• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle
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• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
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• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
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• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers
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• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal
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limbs/digits/tail
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• heterozygotes show loss of the deltoid tuberosity of the humerus
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skeleton
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• heterozygotes exhibit neither surface osteoblastic differentiation nor intramembranous bone formation laterally
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• newborn heterozygotes display delayed ossification of the cranial bones resulting in widened cranial sutures
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• newborn heterozygotes display delayed ossification of the cranial bones resulting in an open anterior and posterior fontanelle
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• in newborn heterozygotes, the interparietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
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• in newborn heterozygotes, the parietal bones are hypoplastic relative to those of wild-type mice; numerous Wormian bones are present
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• newborn heterozygotes have a hypoplastic hyoid bone with two distinct ossification centers
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• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal
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• heterozygotes show loss of the deltoid tuberosity of the humerus
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• newborn heterozygotes exhibit hypoplasia of the clavicle; only a clavicular (lateral) rudiment is observed
• heterozygous clavicles display a slightly hypoactive periclavicular mesenchyme with less advanced cartilaginous differentiation at 16.5 dpc, but with organizing cartilage at 19.5 dpc
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• newborn heterozygotes have a wider xiphoid process of the sternum with two well-separated ossification centers
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• the pubic and ischial bones are widely separated and hypoplastic in newborns
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• the pubic and ischial bones are widely separated and hypoplastic in newborns
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• adult heterozygotes have a solid cartilaginous bar within a thick fibrous sheath; the cartilage appears disorganized with no matrix calcification
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• in adult heterozygotes, epiphyseal growth-plate structure and differentiation are only slightly perturbed
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• at 16.5 dpc, heterozygous embryos show a slight delay in endochondral ossification, with relatively normal vascularization and population of the marrow by hematopoetic cells
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• at 16.5 dpc, the skulls of heterozygotes have slightly thinner cartilage plates with minimal intramembranous ossification; however, ossification is readily detectable at 19.5 dpc
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growth/size/body
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• in heterozygotes, the development of tooth primordia is slightly retarded but otherwise normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cleidocranial dysplasia | DOID:13994 |
OMIM:119600 OMIM:216330 |
J:40784 , J:53868 | |
