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Relevance to Autism

Genetic association has been found between the HTR3A gene and autism in a Caucasian-American population cohort (Anderson et al., 2009). In addition, genetic association has been found between HTR3A and therapeutic response to risperidone treatment in Chinese schizophrenic patients.

Molecular Function

ligand-gated ion channel receptor

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Examination of association of genes in the serotonin system to autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Primary structure and functional expression of the 5HT3 receptor, a serotonin-gated ion channel.
Highly Cited
A cytoplasmic region determines single-channel conductance in 5-HT3 receptors.
Recent Recommendation
Expression analysis of green fluorescent protein in retinal neurons of four transgenic mouse lines.
Recent Recommendation
Neurogenesis and widespread forebrain migration of distinct GABAergic neurons from the postnatal subventricular zone.
Recent Recommendation
Association between a polymorphism of the HTR3A gene and therapeutic response to risperidone treatment in drug-naive Chinese schizophrenia patients.
SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN129R001 
 missense_variant 
 c.161G>T 
 p.Gly54Val 
 Unknown 
  
 Unknown 
 GEN129R002 
 missense_variant 
 c.353C>T 
 p.Thr118Met 
 Unknown 
  
 Unknown 
 GEN129R003 
 missense_variant 
 c.1044G>T 
 p.Trp348Cys 
 Unknown 
  
 Unknown 
 GEN129R004 
 intron_variant 
  
  
 Unknown 
  
 Unknown 
 GEN129R005 
 synonymous_variant 
 c.219G>A 
 p.Val73%3D 
 De novo 
  
  
 GEN129R006 
 missense_variant 
 c.419G>A 
 p.Arg140Gln 
 De novo 
  
 Simplex 
 GEN129R007 
 frameshift_variant 
 c.559del 
 p.Ile187SerfsTer10 
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 
 GEN129R008 
 frameshift_variant 
 c.705dup 
 p.Val236CysfsTer58 
 Familial 
 Maternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN129C001 
 intron_variant 
 rs1150220 
 c.1156+118G>A;c.1093+118G>A;c.1252+118G>A 
  
 Caucasian-American 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 3
 
11
Duplication
 2
 

Model Summary

Persistent activation of the hypersensitive and constitutively active 5-HT3A receptor in vivo may lead to excitotoxic neuronal cell death and functional changes in the urinary bladder, resulting in bladder hyperdistension, urinary retention, and overflow incontinence.

References

Type
Title
Author, Year
Additional
The 5-HT3 subtype of serotonin receptor contributes to nociceptive processing via a novel subset of myelinated and unmyelinated nociceptors.
Primary
Uropathic observations in mice expressing a constitutively active point mutation in the 5-HT3A receptor subunit.

M_HTR3A_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated deletion of exons 7 and 8 of Htr3a gene which encodes transmembrane domain 1, 2, and 3.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: C57BL/6 x B6D2
ES Cell Line: JM1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR3A_1_V13S_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Introduction of a change from the Val13' GTC codon to TCA encoding serine (V13'S) in exon 7 of the Htr3a gene by targeted exon replacement.
Allele Type: Targeted (Mutation)
Strain of Origin: 129Sv/J
Genetic Background: 129Sv/J x C57BL/6J x DBA/2
ES Cell Line: CJ7
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR3A_2_V13S_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Introduction of a change from the Val13' GTC codon to TCA encoding serine (V13'S) in exon 7 of the Htr3a gene by targeted exon replacement.
Allele Type: Targeted (Mutation)
Strain of Origin: 129Sv/J
Genetic Background: 129Sv/J x C57BL/6J x DBA/2
ES Cell Line: CJ7
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR3A_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission1
Decreased
Description: Decreased magnitude of spikes evoked by second phase of the persistent pain response
Exp Paradigm: Electrophysiological recordings in deep horsal horn after an intraplantar formalin injection
 Whole-cell patch clamp
 Unreported
Self grooming: perseveration1
Decreased
Description: Decreased self scratching behavior in response to intrathecal serotonin injection
Exp Paradigm: Scratching response to inthrethecal serotonin administration
 Induced scratching response
 Unreported
Pain or nociception1
Decreased
Description: Decreased pain sensitivity demonstrated by reduced stretching response by i.p. serotonin
Exp Paradigm: Intraperitoneal (i.p.) acetic acid stretching test of visceral nociception
 Intraperitoneal injection
 Unreported
Pain or nociception1
Decreased
Description: Decreased second phase of pain behavior in response to persistent pain
Exp Paradigm: Formalin test for persistent pain
 Paw injection test
 Unreported
Inflammatory response1
 No change
 Local inflammatory reaction
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
Pain or nociception1
 No change
 Von frey filament test
 Unreported
Pain or nociception1
 No change
 Hot plate test
 Unreported
Pain or nociception1
 No change
 Paw withdrawal test
 Unreported
Pain or nociception1
 No change
 Tail flick test
 Unreported
Pain or nociception1
 No change
 Tail pinch test
 Unreported
Pain or nociception1
 No change
 Hot plate test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure, Social behavior

M_HTR3A_1_V13S_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic neuroreceptors1
Decreased
Description: Decreased serotonin induced current demonstrates decreased htr3a receptor expression
Exp Paradigm: Whole-cell patch clamp recordings on scg neurons
 Whole-cell patch clamp
 Unreported
Muscle fiber contraction1
Decreased
Description: Decreased isometric contractions by smooth muscle in response to electrical stimulus
Exp Paradigm: Response to electrical field stimulus
 In vitro electric-pulse-induced isometric smooth muscle contraction
 6 weeks
Renal function1
Abnormal
Description: Absence of voiding contraction with consistent phenotype of overflow incontinence
Exp Paradigm: Conscious mouse cystometry studies to measure voiding reflex in response to infusion of saline
 Mouse cystometry
 8-12 weeks
Urinary system development1
Decreased
Description: Decreased density of nerve fiber innervation of urinary bladder
Exp Paradigm: Whole-mount immunostaining of bladder urothelium using substance p and pgp 9.5
 Immunohistochemistry
 8-10 weeks
Mortality/lethality1
Increased
Description: Increased lethality
Exp Paradigm: General observations
 General observations
 2 months
Developmental trajectory1
Abnormal
Description: Abnormal urinary bladder with epithelial and detrusor smooth muscle hyperplasia and hypertrophy; increased bladder weight; hyperplasia of prostatic urethral epithelium
Exp Paradigm: Histopathological analysis
 Histology
 6 weeks
Gene expression1
Decreased
Description: Decreased htr3a receptor mrna expression
Exp Paradigm: Htr3a receptor mrna expression
 Quantitative pcr (qrt-pcr)
 Unreported
Muscle fiber contraction1
 No change
 In vitro carbachol-induced isometric smooth muscle contraction
 8-12 weeks
Muscle fiber contraction1
 No change
 Urethral compliance measurements
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HTR3A_2_V13S_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Renal function1
Abnormal
Description: Absence of voiding contraction with consistent phenotype of overflow incontinence
Exp Paradigm: Conscious mouse cystometry studies to measure voiding reflex in response to infusion of saline
 Mouse cystometry
 8-12 weeks
General characteristics1
 No change
 General observations
 Unreported
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 Unreported
Synaptic neuroreceptors1
 No change
 Whole-cell patch clamp
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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