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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, a rare mutation in the TBX1 gene has been identified with 22q11 deletion syndrome (22q11DS) (Paylor et al., 2006).

Molecular Function

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
DiGeorge syndrome
AS
Support
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
DiGeorge syndrome
Support
Role of TBX1 in human del22q11.2 syndrome.
DiGeorge syndrome
Support
Structure and function of neonatal social communication in a genetic mouse model of autism.
Support
Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN286R001 
 frameshift_variant 
  
  
 Familial 
 Maternal 
 Multi-generational 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 7
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 81
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 

Model Summary

Tbx1 plays a major role in the molecular etiology and phenotypes of 22q11.2 hemizygosity associated ASD.

References

Type
Title
Author, Year
Primary
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.
Additional
Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.

M_TBX1_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination mediated deletion of bluntended exons 1 and 2 of Tbx1 gene and replaced with hygromycin resistance cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/C57BL/6J
Genetic Background: 129S6
ES Cell Line: WW6
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_TBX1_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Grip strength1
Decreased
Description: Decreased muscle strength
Exp Paradigm: Grip Strength test; Wire hang test
 Grip strength test
 3-4 months
General locomotor activity1
Abnormal
Description: Abnormal movement initiation indicated by higher latency to initiate movement
Exp Paradigm: Initiation of movement test
 Open field test: initiation of movement monitoring
 3-4 months
Stereotypy2
Increased
Description: Increased memory based repetitive behavior
Exp Paradigm: Sponatenous alternation in a T-maze
 T-maze test
 2 months
Social interaction2
Decreased
Description: Decreased active and passive affiliative social interaction
Exp Paradigm: Bidirectional social interaction
 Reciprocal social interaction test
 2 months
Ultrasonic vocalization2
Decreased
Description: Decreased frequency of vocalizations in complex, two-syllable, composite, frequency steps and shorter duration in harmoics, two-syllable, composite and frequency steps
Exp Paradigm: Maternal seperation induced vocalizations
 Monitoring ultrasonic vocalizations: maternal separation
 P7-P8
Thigmotaxis2
Increased
Description: Increased thigmotaxis
Exp Paradigm: Open field test
 Open field test
 2 months
Spatial working memory2
Decreased
Description: Decreased working memory
Exp Paradigm: Sponatenous alternation in a T-maze
 T-maze test
 2 months
General characteristics1
 No Change
 General observations
 3-4 months
Anxiety2
 No Change
 Elevated plus maze test
 2 months
Cued or contextual fear conditioning: Memory of cue1
 No Change
 Fear conditioning test: contextual and acoustic cue-dependent
 3-4 months
General locomotor activity1
 No Change
 Open field test
 3-4 months
General locomotor activity2
 No Change
 Open field test
 2 months
Olfaction2
 No Change
 Olfactory discrimination test
 2 months
Pain or nociception1
 No Change
 Hot plate test
 3-4 months
Sensorimotor gating1
 No Change
 Prepulse inhibition
 3-4 months
Startle response: acoustic stimulus1
 No Change
 Prepulse inhibition
 3-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Social behavior

 

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