Analysis Tools
mortality/aging
| N |
• Background Sensitivity: unlike mice on a mixed 129/Sv and C57BL/6J background, the majority of mice survive past weaning
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behavior/neurological
|
• surviving mice have a 100% incidence of hop gait
|
nervous system
|
• 50% of embryos exhibit intracranial hemorrhages
|
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• 50% of embryos exhibit subcranial and intraventricular hemorrhages
|
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• overall reduction in the number of differentiated neurons in the cortex at E14.5
|
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• at E14.5 mitotic cells are found scattered up the cortical plate rather than being mostly confined to the ventricular surface as in controls
• interkinetic nuclear migration within the ventricular zone is disturbed with a reduction in the percentage of BrdU positive cells on the apical side of the zone
• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone suggesting a defect in radial migration
• late born neurons are mislocalized in the cortex at P15
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• Background Sensitivity: 8% of embryos exhibit a neural tube defect, a much smaller percentage than on the C57BL/6 background
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• at E13.5 the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost in the ganglionic eminence
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• extensive morphological abnormalities are detected at E13.5
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• the pineal gland is absent or severely hypoplastic in nearly all embryos
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• at E14.5 mitotic cells are found scattered up the cortical plate
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• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone
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hydrocephaly
(
J:162396
)
|
• in all mice
|
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• brain ventricles are enlarged in about 50% of embryos at E13.5 and E14.5
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• bodies of the lateral ventricles are more parallel and bulbous than in controls
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• in mice with very mild hydroencephaly epithelial cells are rounded, the epithelium is disorganized and the tight/adherens junctions between cells are less electron-dense
• many of the tight/adherens junctions at the apical poles of choroid plexus cells fail to form tightly closed electron-dense junctions
|
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• overall reduction in the number of differentiated neurons in the cortex at E14.5
• late born neurons are mislocalized in the cortex at P15
|
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• cells expressing SMI32 (a marker of layers III and V) are mislocalized at P15
|
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• olfactory bulbs are not pronounced well in 67% of embryos
|
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• the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost
|
exencephaly
(
J:240594
)
|
• exencephaly is the only neural tube defect seen
|
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• 33% of embryos lack the abducens nerve
|
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• spinal canal is abnormal in all embryos, with abnormal stenosis, presence of blood, or small cyst-like structures in the caudal part of the neural tube
• all embryos have abnormalities in the cerebrospinal fluid space with blockage and/or hemorrhage in at least one part of the ventricular system and/or spinal canal
|
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• at E13.5 abnormal growth of neuroepithelial cells is seen at the level of the third ventricle and in the ganglionic eminence the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost
• Background Sensitivity: the extent of abnormal cell growth is less dramatic in mice on an inbred BALB/c background compared to mice on a mixed 129/Sv and C57BL/6J background
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cardiovascular system
|
• narrow ductus venosus in 67% of mice
|
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• embryos have abnormal heart position involving a 30-40 degree twist along the coronal axis at E13.5 and E14.5
|
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• 33% of embryos have a ventricular septal defect
|
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• 50% of embryos exhibit intracranial hemorrhages
|
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• 50% of embryos exhibit subcranial and intraventricular hemorrhages
|
vision/eye
|
• retinal dysplasia is seen in all mice, similar to that seen in mice on a mixed 129/Sv and C57BL/6J background
(J:162396)
• extensive morphological abnormalities are detected at E13.5
(J:162396)
• retinal abnormalities
(J:240594)
|
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• severe disruption of lamination at P15 with mislocalization of rods, cones, Muller glia, horizontal cells, amacrine cells, and retinal ganglionic cells
|
craniofacial
cleft palate
(
J:240594
)
|
• 33% of embryos have cleft palate
|
cellular
|
• overall reduction in the number of differentiated neurons in the cortex at E14.5
|
|
• at E14.5 mitotic cells are found scattered up the cortical plate rather than being mostly confined to the ventricular surface as in controls
• interkinetic nuclear migration within the ventricular zone is disturbed with a reduction in the percentage of BrdU positive cells on the apical side of the zone
• betaIII tubulin expressing post mitotic neurons are found in the ventricular zone suggesting a defect in radial migration
• late born neurons are mislocalized in the cortex at P15
|
digestive/alimentary system
cleft palate
(
J:240594
)
|
• 33% of embryos have cleft palate
|
endocrine/exocrine glands
|
• the pineal gland is absent or severely hypoplastic in nearly all embryos
|
small thymus
(
J:240594
)
|
• in 67% of mice
|
embryo
|
• Background Sensitivity: 8% of embryos exhibit a neural tube defect, a much smaller percentage than on the C57BL/6 background
|
|
• at E13.5 the cytoarchitecture of the neuroepithelium is disorganized and polarity of progenitor cells is lost in the ganglionic eminence
|
growth/size/body
cleft palate
(
J:240594
)
|
• 33% of embryos have cleft palate
|
hematopoietic system
small thymus
(
J:240594
)
|
• in 67% of mice
|
immune system
small thymus
(
J:240594
)
|
• in 67% of mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| chromosome 1q41-q42 deletion syndrome | DOID:0060412 |
OMIM:612530 |
J:240594 | |
