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Relevance to Autism

Rare mutations in the CXCR3 gene have been identified with autism (Piton et al., 2011).

Molecular Function

A G protein-coupled receptor with selectivity for the chemokines IP10, Mig and I-TAC.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Highly Cited
CXCR3-dependent microglial recruitment is essential for dendrite loss after brain lesion.
Highly Cited
An alternatively spliced variant of CXCR3 mediates the inhibition of endothelial cell growth induced by IP-10, Mig, and I-TAC, and acts as function...
Highly Cited
The chemokine receptors CXCR3 and CCR5 mark subsets of T cells associated with certain inflammatory reactions.
Recent Recommendation
Expression of CXCL10 in cultured cortical neurons.
Recent Recommendation
Unaltered neurological disease and mortality in CXCR3-deficient mice infected intracranially with lymphocytic choriomeningitis virus-Armstrong.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN055R001 
 missense_variant 
 c.343G>C 
 p.Val115Leu 
 Familial 
 Maternal 
  
 GEN055R002 
 missense_variant 
 c.990G>T 
 p.Leu330= 
 Familial 
 Maternal 
 Extended multiplex 
 GEN055R003 
 stop_gained 
 c.73C>T 
 p.Gln25Ter 
 Unknown 
  
 Unknown 
 GEN055R004 
 frameshift_variant 
 c.101_102del 
 p.Glu34ValfsTer20 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 2
 
X
Duplication
 1
 
X
Duplication
 1
 

Model Summary

Ameliorated nephritis in CXCR3-deficient mice due to impaired renal trafficking of effector T cells.

References

Type
Title
Author, Year
Primary
Chemokine receptor CXCR3 mediates T cell recruitment and tissue injury in nephrotoxic nephritis in mice.

M_CXCR3_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination of targeting vector leading to deletion of exon 2 of the Cxcr3 gene.
Allele Type: Targeted (Deletion)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: Not Reported
Mutant ES Cell Line: Not Reported
Model Source: Not Reported

M_CXCR3_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Autoimmune reaction1
Decreased
Description: Decreased nephritis induced histologic injury of kidneys indicated by less glomerular crescent formation and reduced glomerular sclerosis
Exp Paradigm: Histological analysis
 Histology
 Unreported
Adaptive immune response: t cells1
Decreased
Description: Decreased tubulointerstitial t cell infiltrates during autologous and heterologous phase of nephritis
Exp Paradigm: Immunohistochemical cd3 analysis of renal cells; flow cytometric analysis of renal single-cell suspensions
 Flow cytometric analysis
 Unreported
Innate immune response1
Decreased
Description: Decreaesd inflitrating tubulointerstitial and glomerular monoctyes after nephritis
Exp Paradigm: Quantification of tubulointerstitial f4/80+ and glomerular mac-2+ monocytes
 Immunohistochemistry
 Unreported
Adaptive immune response: t cells1
Decreased
Description: Decreased renal ifn-gamma levels after induction of nephritis
Exp Paradigm: NA
 NA
 Unreported
Autoimmune reaction1
Decreased
Description: Decreased renal injury due to nephritis indicated by decreased glomerulosclerosis and infrequent glomerular crescent formation
Exp Paradigm: Periodic acid-schiff staining of nephritic mice
 Histology
 Unreported
Gene expression1
Decreased
Description: Decreased expression of cxcr3 mrna and protein in spleen cells
Exp Paradigm: Cxcr3 mrna and protein expression- flow cytometric analysis
 Flow cytometric analysis
 Unreported
Chemotaxis1
Decreased
Description: Decreased chemotaxis with no migration above basal migration rate in response to cxcr3 specific ligand ip-10/cxcl10
Exp Paradigm: Chemotaxis
 In vitro splenic t cells chemotaxis
 Unreported
Gene expression1
Increased
Description: Increased upregulation of ip-10/cxcl10 mrna during heterologous phase of nephritis
Exp Paradigm: Quantitative pcr (qrt-pcr)
 Quantitative pcr (qrt-pcr)
 Unreported
Gene expression1
Decreased
Description: Decreased expression of cxcr3 mrna and protein in spleen cells
Exp Paradigm: Cxcr3 mrna and protein expression-quantitative pcr (qrt-pcr)
 Quantitative pcr (qrt-pcr)
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Renal morphology1
 No change
 Electron microscopy
 12 months
Renal morphology1
 No change
 Histology
 12 months
Adaptive immune response: b cells1
 No change
 Elisa
 Unreported
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

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