Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdfitm1Krt mutation
(0 available);
any
Mdfi mutation
(17 available)
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mortality/aging
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• death around E10.5; complete penetrance
• Background Sensitivity: complete penetrance of lethality at E10.5, unlike on a mixed 129S4/SvJaeSor and C57BL/6 background in which there is partial penetrance, and on a 129S4/SvJaeSor background in which 75% survive to adulthood and 25% die postnatally
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embryo
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• most embryos at E9.5 have not completed turning
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• developmental retardation is seen at E9.5; most embryos have not completed turning
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• more than 50% of embryos exhibit an undulated neural tube
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• decrease in the numbers of trophoblast giant cells, due to a higher rate of apoptosis
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nervous system
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• more than 50% of embryos exhibit an undulated neural tube
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growth/size/body
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• developmental retardation is seen at E9.5; most embryos have not completed turning
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdfitm1Krt mutation
(0 available);
any
Mdfi mutation
(17 available)
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mortality/aging
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• 25% (those with the most severe skeletal defects) die by P7
• Background Sensitivity: mice on the 129S4/SvJaeSor background survive much longer than on a C57BL/6 or mixed 129S4/SvJaeSor and C57BL/6 backgrounds
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growth/size/body
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• 75% of mutants with skeletal defects have an average 20% reduction in size and weight
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limbs/digits/tail
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• vertebral bodies sometimes fuse laterally in the tail region giving rise to kinky and/or curly tails
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• vertebral bodies sometimes fuse laterally in the tail region giving rise to kinky and/or curly tails
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respiratory system
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• respiratory distress is seen in the 25% of mice that die postnatally, most likely due to rib defects
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skeleton
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• vertebral and rib defects in 90% of mice
• however, the craniofacial and appendicular skeleton is normal
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• truncated ribs fail to attach to the sternum
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• rib defects are apparent at E13.5
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• occasionally, mutants show loss or one or more ribs
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• rib defects include bifurcations in the distal regions of the ribs on both side of the sternum
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• rib defects include fusions in the distal regions of the ribs on both side of the sternum
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• rib defects include truncated ribs that fail to attach to the sternum
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• spinous processes fail to fuse medially in the lumbar and sacral region in newborns and instead often fuse in a cranial to caudal direction
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• vertebral bodies sometimes fuse laterally in the tail region
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• marker analysis indicates that the lateral and ventromedial sclerotome shows defective development, while the medioventral region develops normally
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nervous system
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• embryos at E11.5 show a delay in the closure of the cranial neural tube
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• spinous processes fail to fuse medially in the lumbar and sacral region in newborns, resulting in a mild form of spinal bifida
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embryo
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• embryos at E11.5 show a delay in the closure of the cranial neural tube
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• spinous processes fail to fuse medially in the lumbar and sacral region in newborns, resulting in a mild form of spinal bifida
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdfitm1Krt mutation
(0 available);
any
Mdfi mutation
(17 available)
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mortality/aging
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• about 2/3 of mutants die around E10.5
• Background Sensitivity: penetrance of lethality is less than on a C57BL/6 congenic background, however mutants that die at E10.5, die much sooner than on a 129S4/SvJaeSor background
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Analysis Tools