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Relevance to Autism

Genetic association has been found between the GRM8 gene and autism in an AGRE cohort (Serajee et al., 2003). However, no genetic association was found between GRM8 and autism in a Chinese Han population cohort.

Molecular Function

The encoded protein has glutamate, GABA-B-like receptor activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism.
ASD
Positive Association
Language impairment in ASD
Positive Association
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
ADHD
Negative Association
The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Support
Integrating de novo and inherited variants in 42
ASD
Support
Loss-of-Function Models of the Metabotropic Glutamate Receptor Genes Grm8a and Grm8b Display Distinct Behavioral Phenotypes in Zebrafish Larvae ( Danio rerio)
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
Cloning and expression of rat metabotropic glutamate receptor 8 reveals a distinct pharmacological profile.
Recent Recommendation
Metabotropic glutamate receptor 8-expressing nerve terminals target subsets of GABAergic neurons in the hippocampus.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN113R001 
 synonymous_variant 
 c.2217G>A 
 p.Val739= 
 Unknown 
  
 Unknown 
 GEN113R002 
 missense_variant 
 c.266A>T 
 p.Asp89Val 
 Unknown 
  
 Unknown 
 GEN113R003 
 missense_variant 
 c.1357+78582A>T 
  
 Unknown 
  
 Unknown 
 GEN113R004 
 missense_variant 
 c.1177G>A 
 p.Asp393Asn 
 Unknown 
  
 Unknown 
 GEN113R005 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN113R006 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN113R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN113R008 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN113R009 
 missense_variant 
 c.1229A>T 
 p.Tyr410Phe 
 Unknown 
  
  
 GEN113R010 
 missense_variant 
 c.122G>A 
 p.Arg41Gln 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN113C001 
 intron_variant 
 rs2237731 
 c.2431-16814C>T 
  
 AGRE 
 Discovery 
 GEN113C002 
 3_prime_UTR_variant 
 rs712723 
 c.*29T>C;c.*84T>C 
 C>T 
 AGRE 
 Discovery 
 GEN113C003 
 3_prime_UTR_variant 
  
 A to G 
 N/A 
 AGRE 
 Discovery 
 GEN113C004 
 copy_number_loss 
  
  
  
 Discovery: 1013 European ADHD cases from CHOP, 4105 healthy European controls; Replication: 2493 cases, 9222 controls 
 Discovery & Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Deletion
 3
 
7
Deletion
 1
 
7
Deletion
 1
 
7
Deletion-Duplication
 19
 
7
Duplication
 4
 
7
Deletion
 2
 

Model Summary

KO mice are heavier, mildly insulin resistant, display aberrant exploratory activity, and increased anxiety.

References

Type
Title
Author, Year
Primary
Increased measures of anxiety and weight gain in mice lacking the group III metabotropic glutamate receptor mGluR8.

M_GRM8_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of a segment encoding part of the transmembrane domain from exon 8 of the Grm8 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GRM8_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Insulin tolerance1
Increased
Description: Increased insulin tolerance
Exp Paradigm: Unreported
 Insulin resistance test
 Unreported
Size/growth1
Increased
Description: Increased body weight
Exp Paradigm: General observations
 General observations
 Unreported
Developmental trajectory1
Increased
Description: Increased lean tissue mass and fat tissue mass
Exp Paradigm: Unreported
 Dual-energy x-ray absorptiometry for bone mineral density measurement
 Unreported
Anxiety1
Increased
Description: Decreased exploratory activity in a novel environment shows increased anxiety like behavior is seen in open field and elevated plus maze
Exp Paradigm: Open field test activity monitoring/plus maze test-open field test
 Open field test
 Unreported
Anxiety1
Increased
Description: Decreased exploratory activity in a novel environment shows increased anxiety like behavior is seen in open field and elevated plus maze
Exp Paradigm: Open field test activity monitoring/plus maze test- elevated plus maze test
 Elevated plus maze test
 Unreported
Developmental trajectory1
 No change
 Dual-energy x-ray absorptiometry for bone mineral density measurement
 Unreported
Developmental trajectory1
 No change
 Measurement of tissue weight
 15-16 weeks
General characteristics1
 No change
 General observations
 Unreported
Cued or contextual fear conditioning1
 No change
 Passive avoidance test
 Unreported
Object recognition memory1
 No change
 Novel object recognition test
 Unreported
Spatial learning1
 No change
 Morris water maze test
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Glucose levels1
 No change
 Glucose tolerance test
 Unreported
Satiety response1
 No change
 NA
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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