Human Disease and Mouse Model Detail

Human Disease

Term: Arterial Tortuosity Syndrome; ATS
OMIM ID: 208050

Synonyms

Arterial Tortuosity

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Mus81

MUS81

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Slc2a10

SLC2A10

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Mus81^tm1Esse/Mus81^tm1Esse			involves: 129P2/OlaHsd * C57BL/6	J:133703
No similarity to the expected human disease phenotype was found.²
NOT	Slc2a10^G128E/Slc2a10^G128E		involves: C3HeB/FeJ	J:140316
NOT	Slc2a10^S150F/Slc2a10^S150F		involves: C3HeB/FeJ	J:140316

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12