Research Models

Tardbp Q331K Knock-In

Species: Mouse
Genes: Tardbp
Mutations: Tardp Q331K
Modification: Tardbp: Knock-In
Disease Relevance: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis
Strain Name: N/A
Genetic Background: C57BL/6J
Availability: Available through Pietro Fratta or Abraham Acevedo-Arozena


CRISPR/Cas9 was used to introduce the p.Q331K mutation into the mouse Tardp gene (Fratta et al., 2018). These mice can be used to study the effects of the p.Q331K mutation when TDP-43 is expressed at physiological levels, under the control of its natural regulatory elements.

Studies of tissues derived from these mice revealed that the p.Q331K mutation in TDP-43 results in a gain of splicing function, so that there is more exon skipping of specific “skiptic exons” (skipped exons that are normally constitutively expressed).

Modificaton Details

CRISPR/Cas9 was used to introduce the p.Q331K mutation into the mouse Tardp gene.

Phenotype Characterization

When visualized, these models will distributed over a 18 month timeline demarcated at the following intervals: 1mo, 3mo, 6mo, 9mo, 12mo, 15mo, 18mo+.


No Data

  • Motor Impairment
  • Cortical Neuron Loss
  • Lower Motor Neuron Loss
  • Cytoplasmic Inclusions
  • NMJ Abnormalities
  • Muscle Atrophy
  • Body Weight
  • Premature Death
  • Gliosis

Cortical Neuron Loss

No data.

Lower Motor Neuron Loss

No data.

Cytoplasmic Inclusions

No data.


No data.

NMJ Abnormalities

No data.

Muscle Atrophy

No data.

Motor Impairment

No data.

Body Weight

No data.

Premature Death

No data.

Last Updated: 17 Aug 2018


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Paper Citations

  1. . Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO J. 2018 Jun 1;37(11) Epub 2018 May 15 PubMed.

External Citations

  1. Pietro Fratta
  2. Abraham Acevedo-Arozena

Further Reading

No Available Further Reading