Analysis Tools
embryo
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• embryos are developmentally delayed at E9.5
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mortality/aging
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• die between E9.5 and E12.5
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Allele Symbol Allele Name Allele ID |
Smn1tm1Cdid targeted mutation 1, Christine DiDonato MGI:4836030 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos are developmentally delayed at E9.5
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• die between E9.5 and E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• median survival of 12 days
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| N |
• neuromuscular junctions are similar to controls in the intercostal and triangularis sterni muscles
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• decrease in cardiac autonomic innervation
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• in L3-L5 spinal cord sections but not in the cervical or thoracic regions
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• by P9
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• end-stage mice display skipped or dropped beats
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• at P9-P11
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• at P9-P11
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| N |
• ambulatory throughout life
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• lateral instability of the hind limbs
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• significantly improved righting response
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:183080 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• median survival is 7 days
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• significant decrease in the number of fully innervated motor endplates and increase in the number of partially innervated and denervated endplates in the intercostal muscle
• however, innervation of the endplates in the triangularis sterni muscle is similar to controls
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• increase in intercostal muscle homogeneous motor endplates and decrease in the number of endplates containing secondary structure
• however, endplates in the triangularis sterni muscle are similar to controls
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord
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• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords
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• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords
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• signs of neurodegeneration in the intercostal muscle
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• threshold voltage in motor neurons is significantly lower and amplitude of the persistent inward current is significantly larger indicating increased excitability in cultured motor neurons
• high frequency of postsynaptic potentials in cultured motor neurons
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• by P3 and declines over time
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• at P3-P7
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• at P3-P7
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• at P3-P7
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• decreased motor function
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• never develop the ability to right when placed on the back
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• at P2 or later
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:183080 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viable and indistinguishable from control littermates
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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 04/23/2024 MGI 6.23 |
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