Analysis Tools
mortality/aging
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• most mice die at E16.5
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• remaining mice die during birth or shortly after
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skeleton
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• at E18.5, mice exhibit hypoplasia of all skeletal elements, including shortened axial and appendicular skeletons, malformed vertebrae, a small pelvic girdle, and a small rib cage
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• calvarial elements are thin with a defect in suture closure unlike in wild-type mice
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• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
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• the foramen magnum is displaced anteriorly compared to in wild-type mice
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• mice exhibit severe hypoplasia and delayed fusion of the sphenoid, basisphenoid, and basioccipital bones compared with wild-type mice
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• calvarial elements are thin
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• small and often incompletely ossified
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• reduced in size
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• reduced in size
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• shortened
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• 19% to 26%
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• especially in the manubrium and xiphoid process
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• small
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• cervical vertebrae ossification is delayed compared to in wild-type mice
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• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
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• mice exhibit a delay in suture closure between frontal and parietal bone compared with wild-type mice
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craniofacial
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• calvarial elements are thin with a defect in suture closure unlike in wild-type mice
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• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
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• the foramen magnum is displaced anteriorly compared to in wild-type mice
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• mice exhibit severe hypoplasia and delayed fusion of the sphenoid, basisphenoid, and basioccipital bones compared with wild-type mice
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• calvarial elements are thin
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• small and often incompletely ossified
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• mice exhibit midfacial hypoplasia compared with wild-type mice
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cardiovascular system
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• at E16.5, the yolk sac lacks a clear vasculature and is devoid of blood unlike in wild-type mice
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• thickened at E14.5
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• seen as early as E14.5 and up to E18.5 and varied in severity
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• seen in two mutant embryos at E18.5
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• thickened at E14.5
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hematopoietic system
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• at E14.5, mice exhibit an increase in basophilic erythroblasts and a decrease in mature erythroblasts compared with wild-type mice
• however, mice exhibit a normal pattern of erythroid differentiation at E16.5
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• 27% at E16.5
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• 23% at E16.5
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• 37% at E16.5
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growth/size/body
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• mice exhibit midfacial hypoplasia compared with wild-type mice
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• surviving mice are smaller than normal at birth
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• the sternum is bent inward unlike in wild-type mice
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embryo
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• at E16.5, the yolk sac lacks a clear vasculature and is devoid of blood unlike in wild-type mice
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• at E16.5, mice that die prior to birth exhibit pale placenta unlike wild-type mice
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nervous system
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• mcie exhibit brain overgrowth compared with wild-type mcie
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• enlarged
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• some mice exhibit bulging of the spinal cord at the gap between the atlas and occipital bone unlike in wild-type mice
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muscle
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• at E18.5, the lumbar and sternal muscle portions of the diaphragm are absent and the remaining costal portions are very thin compared to in wild-type mice
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respiratory system
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• reduced in size
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• reduced in size
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Wolf-Hirschhorn syndrome | DOID:0050460 |
OMIM:194190 |
J:149673 | |
