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Phenotypes Associated with This Genotype
Genotype
MGI:6883565
Allelic
Composition
Setxtm1.1Als/Setx+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Setxtm1.1Als mutation (1 available); any Setx mutation (141 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show onset of motor abnormalities at 6 months of age
• mice show increased hindlimb clasping starting at 6 months of age
• mice show a progressive increase in dysfunction on the ledge test starting at 6 months of age
• mice show impaired motor coordination on the rotarod beginning at 6 months of age and progressively worsens with age

nervous system
• mice show mislocalization of TDP-43 in lumbar spinal cord; mislocalization is prominent in motor neurons and is also present in glia
• approximately 10% of ventral horn motor neurons show TDP-43 mislocalization
• however, TDP-43 mislocalization in the cortex is not seen
• ventral horn motor neurons show nuclear membrane defects
• degeneration of ventral horn motor neurons
• mice show a decrease in the number of spinal cord motor large caliber axons in the L5 root
• however, no significant difference in the numbers of choline acetyltransferase-positive neurons is seen in lumbar spinal cord, although a modest, non-significant, reduction is seen
• mice show similar numbers of innervated skeletal muscle contacts, although they show a modest increase in the number of innervated neuromuscular junctions
• primary cortical neurons show impaired nucleocytoplasmic transport
• primary cortical neurons show a nearly 2-fold increase in cell death upon propidium iodide exclusion assay
• cultured cerebellar granule neurons show increased susceptibility to cell death upon potassium chloride withdrawal

homeostasis/metabolism
• primary cortical neurons show a nearly 2-fold increase in cell death upon propidium iodide exclusion assay
• cultured cerebellar granule neurons show increased susceptibility to cell death upon potassium chloride withdrawal

cellular
• primary cortical neurons show a nearly 2-fold increase in cell death upon propidium iodide exclusion assay
• cultured cerebellar granule neurons show increased susceptibility to cell death upon potassium chloride withdrawal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 4 DOID:0060196 OMIM:602433
J:320844


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