Phenotypes Associated with This Genotype

Genotype
MGI:4830521

• Allelic Composition: Tg(Camk2a-Tardbp)#Ckjs/Tg(Camk2a-Tardbp)#Ckjs
• Genetic Background: FVB/N-Tg(Camk2a-Tardbp)#Ckjs

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

mortality/aging

premature death ( J:163612 )

• mean survival is 495 days compared to 632 days for wild-type mice

nervous system

increased neuron apoptosis ( J:163612 )

• at 6 months

decreased brain weight ( J:163612 )

decreased hippocampus volume ( J:163612 )

• at 6 months, hippocampus volume is decreased compared to in wild-type mice

gliosis ( J:163612 )

• at 6 months

abnormal neuron morphology ( J:163612 )

• at 6 months, ubiquitin+ inclusions are detected in the neurons unlike in wild-type cells

• however, no inclusions are observed at 2 months

decreased neuron number ( J:163612 )

• cortical neurons are reduced in number compared to in wild-type mice

neurodegeneration ( J:163612 )

• at 6 months, mice exhibit neuronal loss that resembles frontotemporal lobar degeneration with ubiquitin+ inclusions unlike wild-type mice

reduced long-term potentiation ( J:163612 )

• at 2 months

abnormal miniature excitatory postsynaptic currents ( J:163612 )

• at 2 months, mice exhibit decreased miniature excitatory postsynaptic current (mEPSC) amplitude and altered decay kinetics compared to in wild-type mice

behavior/neurological

impaired contextual conditioning behavior ( J:163612 )

impaired short-term object recognition memory ( J:163612 )

• at 2 and 6 months, mice exhibit impaired 1-hour novel object recognition compared with wild-type mice

abnormal spatial learning ( J:163612 )

• at 2 months, mice exhibit impaired performance in a Morris water maze compared to wild-type mice

abnormal motor capabilities/coordination/movement ( J:163612 )

• at 6 months, mice develop progressive motor behavioral deficits unlike wild-type mice

limb grasping ( J:163612 )

• at 6 months

impaired coordination ( J:163612 )

• at 6 months on a rotarod

cellular

increased neuron apoptosis ( J:163612 )

• at 6 months

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:163612