Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ddb1tm1Spg mutation
(0 available);
any
Ddb1 mutation
(33 available)
Tg(Nes-cre)1Kln mutation
(4 available)
Trp53tm1Tyj mutation
(12 available);
any
Trp53 mutation
(232 available)
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mortality/aging
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• mutants do not survive for more than a day
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nervous system
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• ventricular zone (VZ) and subventricular zone (SVZ) are irregularly enlarged with many abnormal cells; cells show high frequency of mitotic figures, apoptosis and irregularly shaped nuclei
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vision/eye
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• loss of lens epithelium cells is rescued compared to Ddb1tm1Spg;Tg(Nes-cre)1Kln mice; however, cells have abnormally large or small nuclei with irregular shapes and sporadic apoptosis
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ddb1tm1Spg mutation
(0 available);
any
Ddb1 mutation
(33 available)
Tg(Nes-cre)1Kln mutation
(4 available)
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mortality/aging
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• newborn mice die within 24 hours
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nervous system
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• EGL of cerebellum (proliferative zone) is almost absent in mutants
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• overall size of mutant brains is decreased at birth compared to wild-type
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• the fourth (IV) ventricle is open to the brain surface and filled with blood
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• nearly complete loss of cells in the ventricular (VZ) and subventricular zones (SVZ) of lateral ventricles
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• lateral ventricles are dramatically enlarged
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• the aqueduct of Sylvius is open to the brain surface and filled with blood
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• remaining laminated layers show reduced cellularity and numerous red blood cells
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• cortex is much thinner at E16.5 from excess cell death
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• VZ and SVZ of olfactory bulb are missing
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• much smaller than controls
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• most dorsolateral cortical regions lack any vasculature; remaining vessels are dilated compared to control
• many blood vessels in cerebellum are dilated, but severe hemorrhage is only detected in rostrolateral tip
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• bleeding is restricted to the forebrain mainly
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• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
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• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
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• at E14.5, neuroprogenitor cells (NPC) show massive apoptotic death in SVZ and VZ, including pyknotic cells in ganglionic eminence; peak is at E15.5
• at E16.5, cavitations result from hypocellularity in VZ and SVZ
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vision/eye
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• at E15.5, many progenitor epithelial cells are apoptotic
• at E16.5. fewer epithelial cells are present in central pool or equatorial region, with pyknotic nuclei found in whole epithelium layer
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• lenses are severely degenerated in newborn mutants
• lens has fewer cells; cells are abnormally shaped and disorganized
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• lens is much less transparent than in controls
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cardiovascular system
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• cerebrovascular vessels are abnormally dilated and many rupture
• in newborn brains, there are ~12-fold fewer vessels compared to controls
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• bleeding is restricted to the forebrain mainly
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• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
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• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
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cellular
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• at E15.5, many progenitor epithelial cells are apoptotic
• at E16.5. fewer epithelial cells are present in central pool or equatorial region, with pyknotic nuclei found in whole epithelium layer
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• at E14.5, neuroprogenitor cells (NPC) show massive apoptotic death in SVZ and VZ, including pyknotic cells in ganglionic eminence; peak is at E15.5
• at E16.5, cavitations result from hypocellularity in VZ and SVZ
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ddb1tm1Spg mutation
(0 available);
any
Ddb1 mutation
(33 available)
Plekha5Tg(AMH-cre)1Flor mutation
(1 available);
any
Plekha5 mutation
(109 available)
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reproductive system
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• reduced sperm count in epididymis at age 10 weeks
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• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
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• normal in E18 embryos
• at birth
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• normal in E18 embryos
• some cells found in tubule lumen at birth
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• at birth and age P2
• normal size at age P14 and in adult mice
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• enlarged at birth and age P2
• normal in E14 and E18 embryos
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• at age P14, P35 and 10 weeks
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endocrine/exocrine glands
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• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
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• normal in E18 embryos
• at birth
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• some cells found in tubule lumen at birth
• normal in E18 embryos
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• at birth and age P2
• normal size at age P14 and in adult mice
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• enlarged at birth and age P2
• normal in E14 and E18 embryos
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• at age P14, P35 and 10 weeks
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cellular
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• reduced sperm count in epididymis at age 10 weeks
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