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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ddb1tm1Spg
targeted mutation 1, Stephen P Goff
MGI:3698413
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Ddb1tm1Spg/Ddb1tm1Spg
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL MGI:3698834
cn2
Ddb1tm1Spg/Ddb1tm1Spg
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:3698831
cn3
Ddb1tm1Spg/Ddb1tm1Spg
Plekha5Tg(AMH-cre)1Flor/0
involves: 129P2/OlaHsd * C57BL/6 * SJL MGI:6448362


Genotype
MGI:3698834
cn1
Allelic
Composition
Ddb1tm1Spg/Ddb1tm1Spg
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants do not survive for more than a day

nervous system
• 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

vision/eye
• 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




Genotype
MGI:3698831
cn2
Allelic
Composition
Ddb1tm1Spg/Ddb1tm1Spg
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• newborn mice die within 24 hours

nervous system
• EGL of cerebellum (proliferative zone) is almost absent in mutants
• overall size of mutant brains is decreased at birth compared to wild-type
• the fourth (IV) ventricle is open to the brain surface and filled with blood
• nearly complete loss of cells in the ventricular (VZ) and subventricular zones (SVZ) of lateral ventricles
• lateral ventricles are dramatically enlarged
• the aqueduct of Sylvius is open to the brain surface and filled with blood
• remaining laminated layers show reduced cellularity and numerous red blood cells
• cortex is much thinner at E16.5 from excess cell death
• VZ and SVZ of olfactory bulb are missing
• much smaller than controls
• 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
• bleeding is restricted to the forebrain mainly
• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
• 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

vision/eye
• 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
• lenses are severely degenerated in newborn mutants
• lens has fewer cells; cells are abnormally shaped and disorganized
• lens is much less transparent than in controls

cardiovascular system
• cerebrovascular vessels are abnormally dilated and many rupture
• in newborn brains, there are ~12-fold fewer vessels compared to controls
• bleeding is restricted to the forebrain mainly
• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum
• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum

cellular
• 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
• 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




Genotype
MGI:6448362
cn3
Allelic
Composition
Ddb1tm1Spg/Ddb1tm1Spg
Plekha5Tg(AMH-cre)1Flor/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * SJL
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• reduced sperm count in epididymis at age 10 weeks
• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
• normal in E18 embryos
• at birth
• normal in E18 embryos
• some cells found in tubule lumen at birth
• at birth and age P2
• normal size at age P14 and in adult mice
• enlarged at birth and age P2
• normal in E14 and E18 embryos
• at age P14, P35 and 10 weeks

endocrine/exocrine glands
• reduced number at birth and age P2
• some vacuolated tubules at age 10 weeks
• normal in E18 embryos
• at birth
• some cells found in tubule lumen at birth
• normal in E18 embryos
• at birth and age P2
• normal size at age P14 and in adult mice
• enlarged at birth and age P2
• normal in E14 and E18 embryos
• at age P14, P35 and 10 weeks

cellular
• reduced sperm count in epididymis at age 10 weeks





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory