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Human Disease and Mouse Model Detail
Human Disease

Term: Retinitis Pigmentosa; RP
OMIM ID: 268000

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...
Pde6g PDE6G
  mousehuman...both mouse and human orthologous genes.
     
Agtpbp1 AGTPBP1
Ccdc66 CCDC66
Cngb1 CNGB1
Pde6a PDE6A
Pde6b PDE6B
Prph2 PRPH2
Rho RHO
Rpe65 RPE65
Slc6a6 SLC6A6
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
2610301B20Rik C8orf37
Aipl1 AIPL1
Arl6 ARL6
Clrn1 CLRN1
Cnga1 CNGA1
Lrat LRAT
Rbp3 RBP3
Rom1 ROM1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(Rho)1Wbae   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
Pde6gtm1Goff/Pde6gtm1Goff   either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster) J:33048
Models with phenotypic similarity to human disease where etiologies are distinct.2
Agtpbp1pcd/Agtpbp1pcd   involves: C57BL/6J * C57BR/cdJ * DBA/2J J:189268
Ccdc66Gt(E021F10)Wrst/Ccdc66Gt(E021F10)Wrst   involves: 129P2/OlaHsd * C57BL/6N J:174954
Cngb1tm1.1Biel/Cngb1tm1.1Biel   involves: 129S1/Sv * 129X1/SvJ * C57BL/6N J:95768
Cngb1tm1Sjpi/Cngb1tm1Sjpi   involves: 129S/SvEv * C57BL/6 J:150504
Pde6anmf282/Pde6anmf282   A.B6 Tyr+-Pde6anmf282/J J:142108
Pde6anmf363/Pde6anmf363   C57BL/6J-Pde6anmf363 J:142108
Pde6brd10/Pde6brd10   B6.CXB1-Pde6brd10/J J:122722
Pde6brd1/Pde6brd1   C3H/HeJ J:140115
Prph2Rd2/Prph2+   either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A) J:25582
Prph2tm1Nmc/Prph2tm1Nmc   involves: 129S1/Sv * 129X1/SvJ J:76490
Prph2tm1Nmc/Prph2+   involves: 129S1/Sv * 129X1/SvJ J:76490
RhoR3/Rho+   C57BL/6J-RhoR3 J:153281
RhoR3/Rhotm1Jlem   involves: 129S4/SvJae * C57BL/6J J:153281
RhoR3/RhoR3   C57BL/6J-RhoR3 J:153281
Rhotm1.1Kpal/Rho+   involves: 129S6/SvEvTac * C57BL/6 * FVB/N J:170648
Rhotm1Phm/Rhotm1Phm   involves: 129S1/Sv * 129X1/SvJ J:38098
Rhotm2Jhw/Rhotm2Jhw   involves: 129S7/SvEvBrd J:128212
RhoTvrm1/Rho+
Rpe65rd12/Rpe65rd12		   B6.Cg-Rpe65rd12 RhoTvrm1 J:159523
RhoTvrm1/Rho+   C57BL/6J-RhoTvrm1 J:159523
RhoTvrm4/Rho+
Rpe65rd12/Rpe65rd12		   B6.Cg-Rpe65rd12 RhoTvrm4 J:159523
RhoTvrm4/Rho+   B6.Cg-RhoTvrm4 J:159523
Slc6a6tm1Dhau/Slc6a6tm1Dhau   involves: 129X1/SvJ * C57BL/6J J:74276
Models involving transgenes or other mutation types.3
Tg(Rho)1Wbae/0   involves: C57BL/6 * SJL J:12791

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models 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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory