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Relevance to Autism

Male P2X4R-deficient mice were found to exhibit sociocommunicative and sensorimotor impairments (Wyatt et al., 2013).

Molecular Function

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sociocommunicative and sensorimotor impairments in male P2X4-deficient mice.

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Duplication
 1
 
12
Duplication
 3
 
12
Duplication
 1
 
12
Duplication
 1
 
12
Deletion-Duplication
 26
 
12
Deletion-Duplication
 2
 

Model Summary

P2rx4 null mice have impaired sensorimotor gating and social behavior, as well as reduced frequency of ultrasonic vocalizations.

References

Type
Title
Author, Year
Primary
Sociocommunicative and sensorimotor impairments in male P2X4-deficient mice.

M_P2RX4_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: The hetereozygous mice were crossed to generate P2X4R KO (null) mice in the C57Bl/6 background.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/Sv
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_P2RX4_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: The targeting vector replaced the first exon and first 172 bases of the downstream intron with a LacZ neomycin cassetter. Targeted ES cell lines and mice were characterized using southern blotting and back crossed on to the C57Bl/6 background. In the article by Wyatt et al, the HZ mice were re-derived from frozen embryos.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_P2RX4_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Touch1
Increased
Description: Increased tactile sensitivity indicated by reduced latency to remove tape
Exp Paradigm: Sticky tape removal test
 Adhesive tape test
 3-5 months
Startle response: acoustic stimulus1
Decreased
Description: Decreased acoustic startle reflex indicated by reduction in startle amplitude
Exp Paradigm: Startle reflex detection
 Acoustic startle reflex test
 3-5 months
Sensorimotor gating1
Decreased
Description: Decreased delta paired pulse inhibition parameter
Exp Paradigm: Paired pulse inhibition measurements
 Prepulse inhibition
 3-5 months
Social interaction1
Decreased
Description: Decreased social exploration as measured by frequency, duration, number of social approach, and duration of social exploration
Exp Paradigm: Social interaction test
 Reciprocal social interaction test
 3-5 months
Social interaction1
Decreased
Description: Decreased social exploration as indicated by total number of abdominal sniffing, duration, fewer sniffing bouts in abdominal area, reduced abdominal sniffing duration
Exp Paradigm: Social interaction test
 Reciprocal social interaction test
 3-5 months
Ultrasonic vocalization1
Decreased
Description: Decreased frequency of ultrasonic vocalizations
Exp Paradigm: Maternal separation induced ultrasonic vocalizations
 Monitoring ultrasonic vocalizations
 P6-p7
Protein expression level evidence1
Increased
Description: Increased expression of glua1 subunit expression in hippomcapus; glua2 subunit expression in hippocampus, cerebellum, prefrontal cortex
Exp Paradigm: Nmda/ampa glutamate receptor expression
 Western blot
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of glun2a and glun2b subunits in prefrontal cortex; glun1 subunit expression in hippocampus and cerebellum
Exp Paradigm: Nmda/ampa glutamate receptor expression
 Western blot
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 3-5 months
Anxiety1
 No change
 Light-dark exploration test
 3-5 months
Object recognition memory1
 No change
 Novel object recognition test
 3-5 months
Protein expression level evidence1
 No change
 Western blot
 Unreported
General locomotor activity1
 No change
 Open field test
 3-5 months
Olfaction1
 No change
 Olfactory discrimination test
 3-5 months
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_P2RX4_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Startle response: acoustic stimulus1
Decreased
Description: Decreased acoustic startle reflex indicated by reduction in startle amplitude
Exp Paradigm: Startle reflex detection
 Acoustic startle reflex test
 3-5 months
Sensorimotor gating1
Decreased
Description: Decreased delta paired pulse inhibition parameter
Exp Paradigm: Paired pulse inhibition measurements
 Prepulse inhibition
 3-5 months
Touch1
Increased
Description: Increased tactile sensitivity indicated by reduced latency to remove tape
Exp Paradigm: Sticky tape removal test
 Adhesive tape test
 3-5 months
Social interaction1
Decreased
Description: Decreased social exploration as measured by frequency, duration, number of social approach, and duration of social exploration
Exp Paradigm: Social interaction test
 Reciprocal social interaction test
 3-5 months
Social interaction1
Decreased
Description: Decreased social exploration as indicated by total number of abdominal sniffing, duration, fewer sniffing bouts in abdominal area, reduced abdominal sniffing duration
Exp Paradigm: Social interaction test
 Reciprocal social interaction test
 3-5 months
Ultrasonic vocalization1
Decreased
Description: Decreased frequency of ultrasonic vocalizations
Exp Paradigm: Maternal separation induced ultrasonic vocalizations
 Monitoring ultrasonic vocalizations
 P6-p7
Anxiety1
 No change
 Elevated plus maze test
 3-5 months
Anxiety1
 No change
 Light-dark exploration test
 3-5 months
Object recognition memory1
 No change
 Novel object recognition test
 3-5 months
General locomotor activity1
 No change
 Open field test
 3-5 months
Olfaction1
 No change
 Olfactory discrimination test
 3-5 months
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

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