Species

Mus musculus

Symbol

Twist1

Name

twist basic helix-loop-helix transcription factor 1

Synonyms

AA960487
bHLHa38

Biotype

protein coding gene

Automated Description

Enables several functions, including E-box binding activity; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including heart valve development; regulation of transcription by RNA polymerase II; and skeletal system morphogenesis. Acts upstream of or within several processes, including chordate embryonic development; limb morphogenesis; and negative regulation of cytokine production. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; extraembryonic component; and genitourinary system. Used to study Saethre-Chotzen syndrome. Human ortholog(s) of this gene implicated in Sweeney-Cox syndrome; breast cancer (multiple); and synostosis (multiple). Orthologous to human TWIST1 (twist family bHLH transcription factor 1).

MGI Description

PHENOTYPE: Homozygous embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR23349

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

Phenotype Term	Annotation details	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Sequence Feature Viewer

Genome location

Chr12:34007670...34009828 + (2.16 kb)

Assembly version

GRCm39

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

Loading...

Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Twist1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Genetic Interactions

Twist1 role	Twist1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page