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Phenotypes Associated with This Genotype
Genotype
MGI:6343571
Allelic
Composition
Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas/Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas
Genetic
Background
involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-SPAST*C448Y)Baas mutation (0 available); any Gt(ROSA)26Sor mutation (765 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 58% of mice exhibit decreased splay angles of hindlimb limbs when lifted by the tail compared to 33% of wild-type mice, with earlier onset of 80 days compared to 140 days of age in wild-type mice
• 100% of mice exhibit resting tremor at 247 days of age compared to 6.7% of wild-type mice, with onset at 83 days of age
• mice exhibit deficits in gripping the beam in the beam walk assay indicating impaired gait
• females show less severe motor defects than males

growth/size/body
• a decrease in weight is seen in mice older than P150

nervous system
• dorsal and ventral columns show decreased numbers of regular axons and increased numbers of irregular axons, indicating axonal dieback and corticospinal degeneration
• dorsal and ventral columns show decreased numbers of regular axons and increased numbers of irregular axons, indicating axonal dieback
• spinal cord, particularly the lower spinal cord, exhibits a reduction in microtubule stability
• progressive axonal degeneration in the dorsal column
• cortical neurons from P0 mice show a decrease in retrograde movements of axonal lysosomes, with an increase in movements that are halted or stationary
• however, no instantaneous velocity differences in lysosomal movement are seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary spastic paraplegia 4 DOID:0110792 OMIM:182601
J:273408


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
08/03/2022
MGI 6.21
The Jackson Laboratory