INT234297

Context Info Confidence 0.59 First Reported 2008 Last Reported 2008 Negated 0 Speculated 1 Reported most in Body Documents 1 Total Number 10 Disease Relevance 1.49 Pain Relevance 0.50

transport (Gria4) plasma membrane (Gria4)

Anatomy Link Frequency thalamus 2 Gria4 (Mus musculus)

Pain Link Frequency Relevance Heat Glutamate 20 98.64 Thalamus 130 97.52 GABA receptor 10 91.64 antagonist 10 90.48 agonist 10 89.84 cerebral cortex 40 80.04 midbrain 20 23.48 Action potential 40 22.48 nMDA receptor 10 11.40 Glutamate receptor 40 5.00

Disease Link Frequency Relevance Heat Sprains And Strains 200 99.64 Targeted Disruption 90 97.32 Absence Epilepsy 150 96.20 Convulsion 50 93.64 Infection 10 78.96 Retina Disease 10 77.68 Ataxia 50 55.36 Epilepsy 20 5.00 Congenital Anomalies 20 5.00 Generalized Epilepsy 20 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

In the present study, we show that the spkw1 allele has a mutation in Gria4 leading to marked reduction in GluR4 protein expression, and we confirm the gene–phenotype relationship by study of Gria4 knockout mice.

Negative_regulation (reduction) of Gene_expression (expression) of GluR4 associated with targeted disruption

1) Confidence 0.59 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0.70 Pain Relevance 0.04

Both RNA and protein analyses confirm that full-length Gria4 expression is significantly reduced in this strain.

Negative_regulation (reduced) of Gene_expression (expression) of Gria4 associated with sprains and strains

2) Confidence 0.59 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0.39 Pain Relevance 0.15

Thus, in mice with greatly reduced Gria4 expression, the AMPA receptor composition would change in the reticular thalamus, resulting in the observed changes to AMPA receptor function.

Negative_regulation (reduced) of Gene_expression (expression) of Gria4 in thalamus associated with thalamus

3) Confidence 0.59 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0.31 Pain Relevance 0.30

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (backcross) of Gene_expression (pair) of Gria4spkw1

4) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (/) of Gene_expression (pair) of spkw1

5) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (/) of Gene_expression (pair) of Gria4spkw1

6) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (/) of Gene_expression (pair) of Gria4spkw1

7) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (backcross) of Gene_expression (pair) of Gria4spkw1

8) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

During each experiment, a Gria4spkw1/+/Gria4spkw1/spkw1 pair of (FeJ×HeJ)F1×HeJ backcross mice (?

Negative_regulation (backcross) of Gene_expression (pair) of spkw1

9) Confidence 0.43 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0 Pain Relevance 0

Together these data show that a genetic deficiency in Gria4, whether reduction (Gria4spkw1 allele) or complete lack (Gria4tm1Dgen allele), is associated with a high frequency of SWD, modeling absence epilepsy.

Spec (whether) Negative_regulation (reduction) of Gene_expression (allele) of Gria4spkw1 associated with absence epilepsy

10) Confidence 0.37 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2405903 Disease Relevance 0.10 Pain Relevance 0

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