HELP     Sign In
Search

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
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.
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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN286R001 
 frameshift_variant 
 N/A 
 N/A 
 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
 6
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 80
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 

Model Summary

Optomotor-blind-related-gene-1 is a T-box transcription factor involved in the combinatorial activation of somatic muscle lineage-specific targets. Org-1 mutants phenotypically not different from wild type controls, but org-1/pasha double heterozygotes exhibit decreased numbers of neuromuscular junction bouton numbers and altered sleep patterns.

References

Type
Title
Author, Year
Primary
Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism.

F_org-1_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_2_KO_HT_pasha

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and pasha from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_3_KO_HT_CG34449

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and CG34449 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_4_KO_HT_CG13129

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and CG13129 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_5_KO_HT_Sep4

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and Sep4 from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_6_KO_HT_Hira

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and Hira from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_7_KO_HT_sea

Model Type: Genetic
Model Genotype: Heterozygous/heterozygous
Mutation: Stock acquired for positive mutation hits for org-1 and sea from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations. Double (trans-)heterozygotes were isogenised to each other.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_org-1_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Neuroreceptor levels: glutamate receptors: AMPA receptors1
 No change
 Immunohistochemistry
 Third instar larval stage
Synaptic morphology: active zone1
 No change
 Immunohistochemistry
 Third instar larval stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_2_KO_HT_pasha

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
Abnormal
Description: org-1 mutants showed abnormal light/dark sleeping patterns compared to controls.
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
Decreased
Description: org-1 mutants showed a significant decrease in neuromuscular junction bouton number compared to controls.
 Immunohistochemistry
 Third instar larval stage
Neuroreceptor levels: glutamate receptors: AMPA receptors1
 No change
 Immunohistochemistry
 Third instar larval stage
Synaptic morphology: active zone1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_3_KO_HT_CG34449

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_4_KO_HT_CG13129

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_5_KO_HT_Sep4

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_6_KO_HT_Hira

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Sensory, Social behavior

F_org-1_7_KO_HT_sea

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
 No change
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Repetitive behavior, Seizure, Sensory, Social behavior

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.