Analysis Tools
mortality/aging
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• although present in normal Mendelian ratios at E17.5 and E18.5, 75% to 80% of mice die prior to 4 weeks of age
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muscle
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• many mice exhibit disorganized compact layer, especially near the apex, unlike in wild-type mice
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• many mice exhibit abnormal ventricular and interventricular myocardium, including abnormal lacunar structures, compared with wild-type mice
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growth/size/body
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• body weight is decreased 40% to 50% compared to wild-type mice
• by 9 weeks, mice weight 65% to 70% of wild-type
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• mice exhibit a sunken mid-face unlike wild-type mice
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microcephaly
(
J:154117
)
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• during the first weeks of life, mice fail to thrive and undergo several days of wasting followed by death unlike wild-type mice
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• 18% to 19% smaller than wild-type at E17.5 to E18.5
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• at E17.5 to E18.5, mice weight is 18% to 19% less than in wild-type mice
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cardiovascular system
| N |
• no abnormalities detected in the atrioventricular valves or septum, outflow tract, or pulmonary vasculature
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• many mice exhibit abnormal heart morphology compared with wild-type mice
• however, mice that survive the perinatal period exhibit normal heart morphology
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• many mice exhibit disorganized compact layer, especially near the apex, unlike in wild-type mice
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• many mice exhibit abnormal ventricular and interventricular myocardium, including abnormal lacunar structures, compared with wild-type mice
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• in some mice
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• in 50% of mice as early as E15.5
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• in 58% of mice between E15.5 and E17.5
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• at E13.5 77% of hearts show incomplete fusion or lack of contact of the developing septum with the cardiac cushion increased compare to 14% of wild-type hearts
• however, at E17.5 ventricular septal defects are not typically seen
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• at E10.5
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skeleton
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• skull bone thickness is reduced compared to in wild-type mice
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• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
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• the sphenoid bone is reduced compared to in wild-type mice
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• the ethmoid bone is reduced compared to in wild-type mice
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• at E17.5
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vision/eye
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• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice
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• 22% of mice exhibit opthalmological defects unlike wild-type mice
• as early as 3 weeks of age, 14% of mice exhibit ocular opacification unlike wild-type mice
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• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice
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behavior/neurological
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• 30% of mice treated with a normal dose of the anesthetic avertin adopt an opisthotonic position unlike similarly treated wild-type mice
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• in 15% of mice compared with 2% of wild-type mice
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nervous system
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• in some mice
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• lobe IX exhibits a specific reduction compared to in wild-type mice
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hearing/vestibular/ear
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• in a few mice
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• nearly all mice exhibit abnormal relative intensities of the components of the brainstem auditory evoked potential compared with wild-type mice
• peak III is reduced compared to in wild-type mice
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cellular
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• mice embryonic fibroblasts exhibit less spontaneous differentiation into adipocytes compared with wild-type cells
• however, induced adipogenesis of mouse embryonic fibroblasts is normal
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immune system
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• some mice exhibit periorbital inflammation that progresses to permanent closure of eyelids unlike in wild-type mice
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• some mice exhibit inflammatory and fibrotic change consistent with repeated abrasion or injury unlike wild-type mice
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limbs/digits/tail
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• at E17.5
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craniofacial
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• skull bone thickness is reduced compared to in wild-type mice
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• mice exhibit a 25% reduction in endocranial volume compared with wild-type mice
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• the sphenoid bone is reduced compared to in wild-type mice
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• the ethmoid bone is reduced compared to in wild-type mice
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• mice exhibit a sunken mid-face unlike wild-type mice
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adipose tissue
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Cornelia de Lange syndrome 1 | DOID:0080505 |
OMIM:122470 |
J:154117 | |
