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Phenotypes Associated with This Genotype
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prnp-FUS*R521C)3313Ejh mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• most mice die within 4-6 weeks of the onset of symptoms

• poor performance and motor learning on rotarod test
• most mice exhibit prolonged hind limb clasping (100 seconds vs 10 seconds) during the tail suspension test
• motor coordination defects
• most mice exhibit severe spastic paraplegia
• mice have a reduced distance between hind paws during tandem walk tests
• most mice exhibit severe spastic paraplegia

• DNA damage is observed in cortical and spinal motor neurons
• 50% of neurons exhibit comet tails as compared to 20% in controls
• genes involved in dendritic growth and synaptic function exhibit defects in transcription and RNA processing

• most mice exhibit growth retardation

• most mice exhibit severe muscle wasting

nervous system
• primitive dendritic branching is observed in motor neurons of 2-3 month old mice
• cumulative dendritic area is reduced as early as P18
• number of dendritic branches and cumulative dendritic area are reduced in pyramidal neurons of the sensorimotor cortex
• total spine and mature spine densities are reduced on the apical and secondary dendrites of neurons in the sensorimotor cortex
• majority of neuromuscular junctions in diaphragm exhibit partial or complete loss of innervation by 1-3 months of age
• postsynaptic density and number of synapses per unit area is reduced in spinal motor neurons and sensorimotor cortex
• mice exhibit 55% loss of choline acetyltransferase positive (ChAT+) spinal motor neurons by end of life (1-3 months)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 6 DOID:0060198 OMIM:608030

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
MGI 6.17
The Jackson Laboratory