Human Disease and Mouse Model Detail

Human Disease

Term: Pseudoachondroplasia; PSACH
OMIM ID: 177170

Synonyms

Pseudoachondroplastic Dysplasia; Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

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...

Comp

COMP

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(Col2a1-rtTA,tetO-COMP*)2Jath

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Comp^tm1Mbri/Comp^tm1Mbri			involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:125086
Models involving transgenes or other mutation types.²
Tg(Col2a1-rtTA,tetO-COMP*)2Jath/0			C57BL/6-Tg(Col2a1-rtTA,tetO-COMP*)2Jath	J:152756
No similarity to the expected human disease phenotype was found.³
NOT	Comp^tm1Aol/Comp^tm1Aol		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:76781

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³One 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
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