|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• median survival of 12 days
|
| N |
• neuromuscular junctions are similar to controls in the intercostal and triangularis sterni muscles
|
|
• decrease in cardiac autonomic innervation
|
|
• in L3-L5 spinal cord sections but not in the cervical or thoracic regions
|
|
• by P9
|
|
• end-stage mice display skipped or dropped beats
|
|
• at P9-P11
|
|
• at P9-P11
|
| N |
• ambulatory throughout life
|
|
• lateral instability of the hind limbs
|
|
• significantly improved righting response
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:183080 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice do not survive past 2 days with a mean survival of 1 day
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice do not survive past 16 days with a mean survival of 10 days
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• median survival is 7 days
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords
|
|
• signs of neurodegeneration in the intercostal muscle
|
|
• 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
|
|
• by P3 and declines over time
|
|
• at P3-P7
|
|
• at P3-P7
|
|
• at P3-P7
|
|
• decreased motor function
|
|
• never develop the ability to right when placed on the back
|
|
• at P2 or later
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:183080 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• viable and indistinguishable from control littermates
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice survive over a year (some up to 1.5 years) compared to mutants not carrying the Tg(SMN2*A111G)591Ahmb transgene which have a median survival of 4.4-5 days
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice survive over a year in contrast to mutants without Tg(SMN2*A111G)588Ahmb which exhibit embryonic lethality
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mean survival is 227 days
|
|
• 29% fewer lumbar spinal cord neurons than control in 3.5 month old mice
• 19% fewer facial nucleus neurons than control
• 5 day old mice did not exhibit reduced numbers of motor neurons
|
|
• ventral roots from L1-L5 lumbar spinal cord region contain few myelinated axons
• remaining axons are shriveled and exhibit Wallerian degeneration
|
|
• increased number of neuromuscular junctions in gastrocnemius
|
|
• intranuclear aggregates (gems) of the SMN protein in spinal cord are fewer and less intense than in normal littermates
|
|
• reduced amplitudes in evoked muscle potentials from tibial nerve
|
|
• axon sprouting occurs in gastrocnemius and triceps muscles
• sprouts are both nodal and emerge from the neuromuscular junction (terminal)
|
|
• angulated and atrophic fibers observed in gastrocnemius and to a lesser extent in quadriceps and intercostal muscles
|
|
• samples from multiple pelvic and thoracic muscles exhibit abnormal spontaneous activity of single muscle fibers and of motor units in 4-6 month old mice
• abnormal activity is occasionally accompanied by biphasic sharp waves
|
|
• 20-40% smaller than normal littermates
|
|
• toward the end of life
|
|
• mice fail to groom efficiently toward the end of life
|
|
• muscle weakness exhibited by 3 weeks of age
|
|
• mice are less active by 3 weeks of age compared to normal littermates
• exhibit very little activity toward the end of life
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| juvenile spinal muscular atrophy | DOID:12376 |
OMIM:253400 |
J:81238 | |
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 05/28/2024 MGI 6.13 |
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