Human Disease and Mouse Model Detail

Human Disease

Term: Thrombotic Thrombocytopenic Purpura, Congenital; TTP
OMIM ID: 274150

Synonyms

Microangiopathic Hemolytic Anemia; Microangiopathic Hemolytic Anemia, Congenital; Schulman-Upshaw Syndrome; Thrombotic Microangiopathy, Familial; Thrombotic Thrombocytopenic Purpura, Familial; Upshaw Factor, Deficiency of; Upshaw-Schulman Syndrome; USS

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...

Adamts13

ADAMTS13

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Adamts13^tm1Dgi/Adamts13^tm1Dgi			involves: 129X1/SvJ * C57BL/6J * CASA/Rk	J:101752
No similarity to the expected human disease phenotype was found.²
NOT	Adamts13^tm1Dgi/Adamts13^tm1Dgi		involves: 129X1/SvJ * C57BL/6J	J:101752
NOT	Adamts13^tm1Myta/Adamts13^tm1Myta		involves: 129S6/SvEvTac	J:125786

¹Human genes are associated with this disease. Mouse model genotypes 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