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Allele Symbol Allele Name Allele ID |
Utrntm1Jrs targeted mutation 1, Joshua R Sanes MGI:2148539 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• density of acetylcholine receptors in the synapse is 30% lower than in controls, however do not exhibit any behavior abnormalities
• the number of junctional folds is reduced by 50% in skeletal muscle by P11 and persists into adulthood, however nerve terminals and Schwann cells appear normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes are more sensitive to the excitoxic effects of kainate injections, with a higher mortality and more extensive development of hippocampal sclerosis, however susceptibility to kainate induced seizures is similar to that of wild-type
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• homozygotes are more sensitive to the excitoxic effects of kainate injections, with a higher mortality and more extensive development of hippocampal sclerosis, however susceptibility to kainate induced seizures is similar to that of wild-type
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• homozygotes are more sensitive to the excitoxic effects of kainate injections, with a higher mortality and more extensive development of hippocampal sclerosis, however susceptibility to kainate induced seizures is similar to that of wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mild cardiomypathy
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• exhibit a mild skeletal dystrophy that is similar to that of single homozygous Dtna mice
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• mild cardiomypathy
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• compared with Dmdmdx-5Cv Utrntm1Jrs homozygotes
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• mice exhibit fewer muscle fibers with centrally localized nuclei compared with Dmdmdx-5Cv Utrntm1Jrs homozygotes
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• compared with Dmdmdx-5Cv Utrntm1Jrs homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• lifespan is 3-11 weeks
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• 3 of 11 die before weaning
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• exhibit poor growth
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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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• develop a moderate to severe cardiomyopathy similar to that of double mutant Utrntm1Jrs and Dmdmdx mice
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• severe limb contractures
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• distribution of acetylcholine receptors within synapse branches is abnormal, with a patchy or granular distribution
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Duchenne muscular dystrophy | DOID:11723 |
OMIM:310200 |
J:59675 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die between 4 and 14 weeks of age, with only half surviving beyond 8 weeks
(J:42389)
• lifespan is 4-20 weeks
(J:59675)
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• significantly smaller by 4 weeks of age
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• grow more slowly after 3 weeks of age
(J:42389)
(J:59675)
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• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
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• necrosis begins earlier and persists longer than in single Dmd mutants and leads to fibrosis
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• seen by 10 weeks of age
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• begin to exhibit symptoms of skeletal muscle disease at 4 weeks of age and severity progresses with age
(J:42389)
• develop severe skeletal muscle dystrophy
(J:59675)
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• muscle degeneration begins earlier than in single Dmd mutants
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(J:42389)
• develop moderate to severe cardiomyopathy
(J:59675)
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• relaxation time of muscle (time from peak force to baseline) is greatly prolonged
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• sternomastoid muscle generates only 40-60% as much tension as controls in response to stimulation of its nerve, indicating weakness
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• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
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(J:42389)
• develop moderate to severe cardiomyopathy
(J:59675)
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• exhibit fewer junctional folds in the neuromuscular junction
(J:42389)
• distribution of acetylcholine receptors within the synapse branches is abnormal, with a patchy distribution
(J:60776)
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• exhibit contracted and stiff limbs at 4 weeks of age
(J:42389)
• severe limb contractures
(J:59675)
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• abnormal waddling gait is seen at 4 weeks of age
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• large areas of necrotic myocytes with infiltrating mononuclear cells are present in 5 of 9 mutant hearts examined at 8 to 11 weeks of age
• necrosis is most prominent in the epicardial surface of the right ventricle, but is seen throughout both ventricles, however ventricles are not dilated or hypertrophic
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• necrosis begins earlier and persists longer than in single Dmd mutants and leads to fibrosis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Duchenne muscular dystrophy | DOID:11723 |
OMIM:310200 |
J:42389 , J:59675 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• endomysial inflammation in the diaphragm is more severe at 3 months of age than in single Dmdmdx hemizygous males
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• endomysial inflammation in quadriceps is more severe at 3 months of age than in single Dmdmdx hemizygous males
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• endomysial inflammation in the diaphragm is more severe at 3 months of age than in single Dmdmdx hemizygous males
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• endomysial inflammation in quadriceps is more severe at 3 months of age than in single Dmdmdx hemizygous males
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• mice develop mild endomysial fibrosis in quadriceps at 6 months
• endomysial fibrosis in the diaphragm is more severe than in single Dmdmdx hemizygous males
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Duchenne muscular dystrophy | DOID:11723 |
OMIM:310200 |
J:140282 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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