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Phenotypes Associated with This Genotype
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tardbptm3.1Ckjs mutation (0 available); any Tardbp mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• males show a shorter life span, with an average of 19.5 +/- 2 months
• survival of females is longer than males, with average age being 25.5 +/- 6 months
• male-to-female ratio of the surviving pups is 1 to 2.6

• males exhibit motor dysfunction at 6 months of age or older
• however, young and old males do not show impaired performance on the T-maze task
• disease onset in females is highly variable and about 30% of females are indistinguishable from wild-type females
• males start to show hind limb-clasping around 8 months of age
• mice exhibit spastic and trembled gait at 18 months and beyond
• males show a shorter latency to fall than wild-type mice starting after 5 months of age
• males develop hindlimb paralysis with age
• mice exhibit spastic and trembled gait at 18 months and beyond

• males lose weight after 18 months of age

• 12 and 24 month old males exhibit skeletal muscle atrophy, with a decrease in wet weight of soleus muscle and reduction of calf muscle volume

nervous system
• astrogliosis is seen in the spinal cord in aged, but not 6 month, mice
• the level of ubiquitinated proteins is increased in the ChAT+ motor neurons of spinal cord of 6 month or older males, most of which are in the cytosol
• males show an age-dependent loss of spinal cord motor neurons, with nearly 30%, 62%, and 77% loss at 6 months, 12 months, and 24 months, respectively
• 30% loss of motor neurons in the lumbar region of the spinal cord at 6 months of age while the motor cortex, especially the primary motor cortex, only shows NeuN+ neuron loss at 24 months of age, indicating that lower motor neurons are affected first and then pathology spreads to the upper motor neurons
• however, males do not show loss of neurons in the dentate gyrus, CA1 or CA3 regions of hippocampus
• 6 month old males show denervation of the neuromuscular junction of soleus muscle which progresses with ageing
• TDP-43+ aggregates appear in the cytosol of spinal cord motor neurons of 12 and 24 month old males and colocalize with ubiquitinated proteins

• males start to show kyphosis at around 8 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 10 DOID:0060201 OMIM:612069

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