Phenotypes Associated with This Genotype

Genotype
MGI:5310970

• Allelic Composition: Tg(Thy1-TARDBP*)BOddo/0
• Genetic Background: C57BL/6-Tg(Thy1-TARDBP*)BOddo

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

behavior/neurological phenotype ( J:180165 )

N • 6 month old mutants do not exhibit motor dysfunction, and show normal spontaneous activity, open-field thigmotaxis, time spent in the center of the arena, and rotarod performance

impaired spatial learning ( J:223932 )

• 15 month old mice perform worse than wild-type mice on the Morris water maze on day 2-4, traveling longer distances to find the hidden platform and spending less time in the target quadrant

abnormal long-term spatial reference memory ( J:223932 )

• 15 month old mutants perform worse than controls in the radial arm water maze showing more entries in arms without platform on day 2, indicating impaired spatial memory

abnormal spatial working memory ( J:180165 )

• mutants exhibit impaired performance on the T-maze at 6 months, but not 2 months of age, indicating impaired working memory

abnormal response to novel object ( J:180165 )

• in the novel object recognition task, mutants at 6 months of age, did not discriminate between the novel and old object as in controls, indicating impaired cortical and hippocampal function

impaired coordination ( J:223932 )

• 15 month old mice perform worse than wild-type controls on the rotard and the accelerated rotarod

cellular

abnormal autophagy ( J:223932 )

• marker analysis indicates that autophagy induction is reduced in 15 month old mice

homeostasis/metabolism

abnormal autophagy ( J:223932 )

• marker analysis indicates that autophagy induction is reduced in 15 month old mice

abnormal enzyme/coenzyme activity ( J:223932 )

• 15 month old mice show a decrease in chymotrypsin-like, trypsin-like, and caspase-like activities of the proteasome in the brain, indicating a decrease in proteasome function

nervous system

abnormal brain morphology ( J:223932 )

• 15 month old mice mice show increased soluble levels of the 25 kDa C-terminal fragment of TARDBP in the nucleus and cytosol

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions		DOID:0060672	OMIM:607485	J:180165