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Phenotypes Associated with This Genotype
involves: C57BL/6J * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
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phenotype observed in females
phenotype observed in males
N normal phenotype
• mice are unable to extend their hindlimbs when lifted by the tail
• mice develop tremor at 5-6 months of age
• mice develop severe paraparesis by 5-6 months of age

• atrophic, angulated muscle fibers are frequently seen in hindlimb skeletal muscle, indicative of denervation atrophy
• mice develop general muscle weakness at 5-6 months of age

nervous system
• large numbers of abnormal tau filaments are seen in the cytoplasm and processes of nerve cells from 5-6 month old mice
• majority of filaments resemble half-twisted ribbons seen in FTDP-17, while a minority resemble paired helical filaments of Alzheimers disease
• reactive astrocytosis in the motor neurons of the anterior horn of the spinal cord
• reduction in the number of motor neurons in the ventral gray matter of 6 month old mutants
• 49% reduction in the number of motor neurons in the anterior horn of the spinal cord
• neuronal cell bodies are often swollen or severely atrophic
• occasionally pyknotic neurons are surrounded by glial cells, suggesting neuronophagia


immune system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
frontotemporal dementia DOID:9255 OMIM:600274

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 6.14
The Jackson Laboratory