Analysis Tools|
Allele Symbol Allele Name Allele ID |
Smn1tm1.1Jme targeted mutation 1.1, Judith Melki MGI:2384155 |
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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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• at 9 days post-coitum, all of homozygous embryos were resorbed, indicating embryonic lethality during early development
• no live born mice were obtained by heterozygous cross
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• gained weight normally and have remained indistinguishable from wild-type up to 12 months of age
• histological examination of skeletal muscle did not show any morphological changes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• extremely reduced life expectancy, dying at a mean age of 25 days
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• severe motor defect evident at 2 weeks of age
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• abnormal posture of the hindlimbs
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• presence of groups of atrophic muscle fibers and angular fibers intermixed with normal-size fibers
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• severe hypotonia characterized by a defect of flexor muscles of the limbs and neck when suspended on a horizontal thread
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• pronounced morphological changes of nuclei of motor neurons
• the presence of indentations of the nuclear membrane
• no significant loss of motor neurons of the anterior horns was detected in 2-weeks old mutant mice
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• presence of a marked extrajunctional labeling of acetylcholine receptors indicating a denervation of skeletal muscle of neurogenic orgin
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:61396 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• extremely reduced life expectancy, dying at a mean age of 33 days
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• in 4 weeks old mutant mice
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• reduced spontaneous and induced motor activity after 3 weeks of age
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• infiltration of connective tissue with mononuclear cells, and regenerating myocytes in 4-weeks-old mutant mice
• the morphology of skeletal muscle from mutant mice was similar to that of control at 3 weeks of except the presence of some rare necrotic muscle fibers surrounded by mononuclear cell infiltration
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• excessive variation in fiber size
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• large central nuclei in 4-weeks-old mutant mice
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• in 4-weeks-old mutant mice
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• based on immunological examination, mutant mice display destabilization of the sarcolemma indicated by increased serum creatine kinase activity, abnormal uptake of a membrane impermeant molecule, and patchy or lacking dystrophin
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| N |
• the morphology of motor neurons was similar to that of control and no significant loss of motor neurons of the anterior horns was detected in mutant mice at 4 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Werdnig-Hoffmann disease | DOID:13137 |
OMIM:253300 |
J:67884 | |
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 11/12/2024 MGI 6.24 |
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