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Human Disease and Mouse Model Detail
Human Disease

Term: Retinitis Pigmentosa 3; RP3
OMIM ID: 300029

Synonyms Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women; Cone-Rod Degeneration, X-Linked; Retinitis Pigmentosa 15; RP15
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...
Rpgr RPGR
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(CAG-Rpgr)mRDefWrght   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
Rpgrtm1Tili/Rpgrtm1Tili   involves: 129S4/SvJae * C57BL/6 J:61371
Tg(CAG-Rpgr)mRDefWrght/0
Rpgrtm1Tili/Rpgrtm1Tili
  involves: 129S4/SvJae * C57BL/6J J:181417
Models involving transgenes or other mutation types.2
Tg(CAG-Rpgr)mRDefWrght/0   C57BL/6-Tg(CAG-Rpgr)mRDefWrght J:181417
Tg(CAG-Rpgr)mRDefWrght/0
Rpgrtm1Tili/Rpgrtm1Tili
  involves: 129S4/SvJae * C57BL/6J J:181417

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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory