Analysis Tools
mortality/aging
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• majority of homozygotes die between 6 and 30 days postnatal; remainder die shortly after weaning; postnatal death due to combination of hydrocephalus and heart defects (data not shown)
(J:108701)
• Background Sensitivity: unlike mice on an inbred BALB/c background all mice die before weaning
(J:162396)
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• expected numbers of homozygotes survived to E18.5, but homozygous pups found after birth is far below expected frequency (data not shown)
(J:108701)
• about 30% of homozygous pups survive to birth
(J:162396)
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digestive/alimentary system
cleft palate
(
J:240594
)
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• in some embryos
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embryo
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• Background Sensitivity: 15% of embryos have neural tube defects, an intermediate percentage on the mixed background compared to on a C57BL/6 or BALB/c background
• neural tube defects are small at early stages (E9.5-E10.5) and progress to larger lesions after E13.5
• neural tube defects mainly are exencephaly and rostral spinal bifida and rarely craniorachischisis
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spina bifida
(
J:240594
)
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• seen only rarely
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growth/size/body
cleft palate
(
J:240594
)
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• in some embryos
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narrow head
(
J:240594
)
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• dolichocephaly in some embryos
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• homozygotes surviving birth are runted
(J:108701)
• surviving pups are about 1.5 - 2 times smaller than littermate controls
(J:162396)
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craniofacial
micrognathia
(
J:240594
)
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• in some embryos
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• homozygotes surviving birth have a domed head shape
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cleft palate
(
J:240594
)
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• in some embryos
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narrow head
(
J:240594
)
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• dolichocephaly in some embryos
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endocrine/exocrine glands
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• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5
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renal/urinary system
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• a high percentage of embryos exhibit urethral abnormalities
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nervous system
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• increase in the number of apoptotic cells in the brain at E13.5
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• about a 2 to 2.5 fold increase in the mitotic index in the neural tube at E11.5 and E13.5
• increase in the percentage of BrdU positive cells in the ganglionic eminence suggesting a shortening of the cell cycle of neural progenitors
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• Background Sensitivity: 15% of embryos have neural tube defects, an intermediate percentage on the mixed background compared to on a C57BL/6 or BALB/c background
• neural tube defects are small at early stages (E9.5-E10.5) and progress to larger lesions after E13.5
• neural tube defects mainly are exencephaly and rostral spinal bifida and rarely craniorachischisis
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spina bifida
(
J:240594
)
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• seen only rarely
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• extensive morphological abnormalities are detected at E13.5
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• at E13.5 cells in the VZ are disorganized, less columnar, and protrude into the ventricles
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hydrocephaly
(
J:162396
)
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• in all pups at P5 - P30
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• drastically dilated with severe damage to the subventricular structures
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• at E13.5 the normal radial orientation of progenitor cells in the ganglionic eminence is lost
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exencephaly
(
J:240594
)
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• a high percentage of embryos exhibit abnormal trigeminal nerve
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• a high percentage of embryos exhibit abnormal spinal ganglia
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• at E13.5 abnormal growth of neuroepithelial cells is seen either at the level of the third ventricle or throughout the brain
• at E13.5 rosettes are seen in the neuroepithelium and highly proliferative neural progenitors are spread throughout the proliferating neuroepithelium rather than being confined to the ventricular zone of the telencephalon as in controls
• Background Sensitivity: the extent of abnormal cell growth is more dramatic in mice on a mixed 129/Sv and C57BL/6J background compared to mice on an inbred BALB/c background
• severe over-expansion frequently prevents the identification of forebrain structures
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• about a 2 to 2.5 fold increase in the mitotic index at E11.5 and E13.5
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vision/eye
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• most common retinal defect is bilateral retinal dysplasia
• extensive morphological abnormalities are detected at E13.5
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• at E13.5 progenitor cells in the central region are arranged in rosette-like structures
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• dysplastic rosettes are present in mice with bilateral retinal dysplasia
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• dysplastic rosettes are present in mice with bilateral retinal dysplasia
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reproductive system
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• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5
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skeleton
micrognathia
(
J:240594
)
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• in some embryos
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• homozygotes surviving birth have a domed head shape
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cellular
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• increase in the number of apoptotic cells in the brain at E13.5
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• about a 2 to 2.5 fold increase in the mitotic index in the neural tube at E11.5 and E13.5
• increase in the percentage of BrdU positive cells in the ganglionic eminence suggesting a shortening of the cell cycle of neural progenitors
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| chromosome 1q41-q42 deletion syndrome | DOID:0060412 |
OMIM:612530 |
J:240594 | |
