Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation
(1 available);
any
Dtna mutation
(45 available)
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behavior/neurological
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• at 4 months of age, male homozygotes show reduced mean latencies to fall in a rotarod test; older males exhibit an even greater reduction
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation
(1 available);
any
Dtna mutation
(45 available)
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muscle
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• degeneration of myocytes
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• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic
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• develop mild skeletal dystrophy by 1 month of age; see small groups of degenerating myofibers and infiltrating monocytes
(J:59675)
• the diaphragm is the most severely affected skeletal muscle
(J:59675)
• muscle fibers are less structurally compromised than in Dmdmdx mice and appear to maintain the dystrophin-containing glycoprotein complex
(J:59675)
• about 40% of fibers are dystrophic
(J:60776)
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cardiovascular system
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• degeneration of myocytes
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• 61% exhibit mild cardiomyopathy at 1 month, including mononuclear-cell infiltration and fibrosis, associated with plaques that are scattered through both ventricles, however hearts are not dilated or hypertrophic
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nervous system
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• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution, however movement is normal
• derangement of the postsynaptic membrane, with a 50% reduction in the density of junctional folds and altered distribution of electron-dense material
• postsynaptic apparatus is fragmented into discrete boutons
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behavior/neurological
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• single knockout mutants perform more poorly than controls but better than double knockouts with DtnbGt(OST109050)Lex
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• single knockout mutants perform more poorly than controls but better than double knockouts with DtnbGt(OST109050)Lex
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muscle
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• exhibit a mild skeletal dystrophy that is similar to that of single homozygous Dtna mice
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cardiovascular system
nervous system
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• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution
• subset of synapses (20-30%) are more severely disrupted than in single Dtna mutants, with the normal branching morphology of acetylcholine receptors replaced with coarse striations radiating in a zebra stripe-like pattern
• almost complete lack of junctional folds in the postsynaptic membrane
• cultured myotubes show defects in acetylcholine clustering
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mortality/aging
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• 3 of 11 die before weaning
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growth/size/body
muscle
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• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice
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• develop severe skeletal dystrophy, however muscles are no more dystrophic than muscles of double Utrntm1Jrs and Dmdmdx mutant mice
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cardiovascular system
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• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice
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skeleton
limbs/digits/tail
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• severe limb contractures
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nervous system
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• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution
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cellular
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dtnatm1Jrs mutation
(1 available);
any
Dtna mutation
(45 available)
DtnbGt(OST109050)Lex mutation
(0 available);
any
Dtnb mutation
(71 available)
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behavior/neurological
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• mutants have significantly decreased performance in ability to balance on a small platform, to hang from an inverted screen, or to balance on a rotating rod at constant or accelerating speeds
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• double mutants have significantly poorer performance in a forelimb grip strength test
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nervous system
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• in double knockouts, inhibitory synapse formation in the cerebellum is defective
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mortality/aging
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• life span is 8-10 months
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muscle
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• develop moderate to severe cardiomyopathy
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• exhibit a more severe dystrophy than single Dmdmdx mutant mice, but not as severe as that of double mutant Utrntm1Jrs and Dmd mdx mice or triple mutant Utrntm1Jrs, Dtnatm1Jrs, and Dmdmdx mice
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cardiovascular system
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• develop moderate to severe cardiomyopathy
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nervous system
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• at 2-4 months of age, synapses are broken into discrete boutons and acetylcholine receptors are patchily distributed within the boutons
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Analysis Tools
