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Phenotypes Associated with This Genotype
Genotype
MGI:3699155
Allelic
Composition
Spasttm1.1Jme/Spasttm1.1Jme
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spasttm1.1Jme mutation (0 available); any Spast mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• progressive axonal swelling is seen in the ascending and descending tracts of the white matter of the spinal cord beginning around 4 months of age (J:117740)
• swellings are restricted to the central nervous system (J:117740)
• focal swellings contain an accumulation of organelles (J:117740)
• in cultured cortical neurons axonal swellings are localized proximal to the region of transition between stable and dynamic microtubules (J:117740)
• progressive axonal swelling is seen in the ascending and descending tracts of the white matter of the spinal cord beginning around 4 months of age (J:117740)
• swellings are restricted to the central nervous system (J:117740)
• focal swellings contain an accumulation of organelles (J:117740)
• in cultured cortical neurons axonal swellings are localized proximal to the region of transition between stable and dynamic microtubules (J:117740)

behavior/neurological
• at 22 months of age, but not at 4 or 12 months, the alteration coefficient is increased (J:117740)
• from 15 to 24 months of age mice display a larger decrease (35%) in critical speed compared to controls (17%) (J:117740)
• at 22 months of age, but not at 4 or 12 months, the alteration coefficient is increased (J:117740)
• from 15 to 24 months of age mice display a larger decrease (35%) in critical speed compared to controls (17%) (J:117740)
• reduced step length at 22 months of age but, not at 4 or 12 months (J:117740)
• reduced step length at 22 months of age but, not at 4 or 12 months (J:117740)

reproductive system

Mouse Models of Human Disease
OMIM ID Ref(s)
Spastic Paraplegia 4, Autosomal Dominant; SPG4 182601 J:117740


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory