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.
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.
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:
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:
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:
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:
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:
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:
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:
