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Phenotypes Associated with This Genotype
Genotype
MGI:3721894
Allelic
Composition
Smn1tm1Jme/Smn1tm1.1Jme
Tg(ACTA1-cre)79Jme/0
Genetic
Background
involves: 129 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1.1Jme mutation (1 available); any Smn1 mutation (87 available)
Smn1tm1Jme mutation (3 available); any Smn1 mutation (87 available)
Tg(ACTA1-cre)79Jme mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• extremely reduced life expectancy, dying at a mean age of 33 days

behavior/neurological
• in 4 weeks old mutant mice
• reduced spontaneous and induced motor activity after 3 weeks of age
• severe muscle paralysis after 3 weeks of age

skeleton
• severe kyphosis after 3 weeks of age

muscle
• 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
• excessive variation in fiber size
• large central nuclei in 4-weeks-old mutant mice
• in 4-weeks-old mutant mice
• 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

nervous system
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

homeostasis/metabolism

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
J:67884


Contributing Projects:
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
The Jackson Laboratory