Human Disease and Mouse Model Detail

Human Disease

Term: Choroideremia; CHM
OMIM ID: 303100

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...

Chm

CHM

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Chm^tm1.1Seab/Y Tg(Six3-cre)69Frty/0		3	involves: 129X1/SvJ * C57BL/6 * DBA/2	J:105458
Chm^tm1.1Seab/Chm^tm1.1Seab Tg(Six3-cre)69Frty/0		3	involves: 129X1/SvJ * C57BL/6 * DBA/2	J:105458
Chm^tm1.2Seab/Chm⁺			involves: 129X1/SvJ	J:105458
Chm^tm1.3Seab/Chm⁺			involves: 129X1/SvJ	J:105458
No similarity to the expected human disease phenotype was found.²
NOT	Chm^tm1Jvdh/Y		involves: 129P2/OlaHsd * C57BL/6	J:40673

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.
³Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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