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Phenotypes Associated with This Genotype
Genotype
MGI:3663375
Allelic
Composition
Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/Tg(SMN2)2Hung
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
• mice with the most severe phenotype (type 1) die before P10
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
• mice with a mild phenotype (type 3) live a normal lifespan

nervous system
• presence of glial bundles observed in anterior spinal root of type 1 mice
• selective loss of thick myelinated fibers observed in anterior spinal root of type 1 mice
• loss of large motor neurons in anterior horns of spinal cord with appearance of empty cell beds
• phenotype is not observed in type 3 mice
• exhibited in motor neurons of anterior horn of type 1 mice
• exhibited in anterior spinal roots
• phenotype is not observed in type 3 mice

muscle
• decreased diameter of muscle fibers in tail
• atrophic fibers associated with hypertrophic type 1 fibers in type 1 mice
• fewer muscle fibers in trunk and limb muscles
• atrophy of muscle bundles in tail, trunk and limb muscles

limbs/digits/tail
• decreased diameter of muscle fibers, atrophy of muscle bundles, group atrophy and subcutaneous edema
• edema is more severe in type 3 than in type 2 mice and rare in type 1 mice
• exhibited by mice with the type 3 phenotype
• 50% of type 1 and 2 mice develop chronic necrosis from the tip of the tail to the root
• exhibited by mice with the type 3 phenotype

homeostasis/metabolism
• subcutaneous edema of tail, most severe in type 3 mice and rare in type 1
• subcutaneous edema of hindlimbs

behavior/neurological
• exhibited in some type 2 mice

growth/size/body
• exhibited by all three phenotypes, decrease is proportionate to severity of symptoms

integument
• type 1 mice do not develop fur

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
J:59313


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
10/29/2024
MGI 6.24
The Jackson Laboratory