Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
retinitis pigmentosa 1 (human)
Synonyms:
Rp1h,  Dcdc3,  mG145,  Orp1,  oxygen-regulated protein 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rp1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema OMIM:617304
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy, Ab... OMIM:616648
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Oguchi Disease
Rod-cone dystrophy, Mizuo phenomenon, Macular degeneration, Congenital stationary night blindness ORPHA:75382
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Retinal atrophy, Rod-cone dystrophy, Hyperautofluoresc... OMIM:617406
Retinal Detachment
Retinal detachment OMIM:180050
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Canavan Disease
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy ORPHA:141
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Nephronophthisis 15
Retinal degeneration OMIM:614845
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Retinal degeneration, Optic atrophy OMIM:214980
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Macular degeneration, Optic atrophy OMIM:204200
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Geographic atrophy OMIM:180105
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Birdshot Chorioretinopathy
Vitritis, Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology OMIM:605808
Mucolipidosis Iv
Retinal degeneration, Optic atrophy OMIM:252650
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy OMIM:300438
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... ORPHA:52427
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... OMIM:605549
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Abnormality of visual evoked potentials, Optic nerve misrouting, Depigme... ORPHA:352731
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Late-Onset Retinal Degeneration
Fundus atrophy, Peripapillary atrophy, Multifocal subretinal deposits, Choroidal neovascularizati... ORPHA:67042
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:604360
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked ... ORPHA:436245
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:120970
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Abnormal... ORPHA:320401
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Retinal degeneration, Optic atrophy OMIM:249270
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular degeneration ORPHA:816
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610283
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Macular atrophy, Cone/cone-rod dystrophy, Bone spicule ... OMIM:615994
Scheie Syndrome
Retinal degeneration OMIM:607016
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Geographic atrophy, Abnormal auditory evoked potentials, Optic disc pallor,... OMIM:619260
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:180100
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic disc pa... OMIM:601152
Senior-Loken Syndrome 9
Rod-cone dystrophy, Retinal dystrophy, Macular degeneration OMIM:616629
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Epiretinal membrane, Phot... OMIM:616959
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials OMIM:245200
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Aceruloplasminemia
Retinal degeneration OMIM:604290
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Retinal degeneration, Abnormality of pattern visual evoked potentials ORPHA:166035
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity OMIM:256600
Werner Syndrome
Retinal degeneration OMIM:277700
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Retinal degeneration, Optic atrophy ORPHA:391428
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Decreased nerve conduc... ORPHA:485421
Papillorenal Syndrome
Morning glory anomaly, Retinal detachment, Chorioretinal atrophy, Macular degeneration, Optic dis... OMIM:120330
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased amplitude of sensory action potentials, Optic ... OMIM:229300
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Optic at... ORPHA:52368
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Non-Specific Early-Onset Epileptic Encephalopathy
Retinal degeneration, Optic atrophy ORPHA:442835
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinal degeneration, Retinopathy OMIM:239000
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Macular coloboma, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Un... ORPHA:423479
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration, Abnormality of pattern visual evoked potentials ORPHA:2822
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Micro Syndrome
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Retinal coloboma, O... ORPHA:2510
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of peripheral nerve conductio... ORPHA:35069
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Pseudoxanthoma Elasticum
Optic disc drusen, Retinal hemorrhage, Choroidal neovascularization, Macular degeneration, Retina... OMIM:264800
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309256
Nephronophthisis 11
Retinal degeneration OMIM:613550
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy, Decreased nerve conduction velocity ORPHA:309263
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Macular atrophy OMIM:601777
Bardet-Biedl Syndrome 1
Retinal degeneration, Aganglionic megacolon, Rod-cone dystrophy, Hyperautofluorescent macular les... OMIM:209900
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Pigmentary retinopathy, Rod-cone dy... ORPHA:157850
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Rod-cone dystrophy, Retinal degeneration, Hypoautofluorescent retinal lesion OMIM:250410
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Retinal atrophy, Macular atrophy, Cone/con... ORPHA:85167
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Enlarged flash visual evoked potentials, Hypoplasia of the retina, Retinal degeneration, Retinal ... OMIM:253280
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Macular degeneration, Retinal hemorrhage OMIM:177850
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Infantile Krabbe Disease
Cherry red spot of the macula, Abnormality of visual evoked potentials, Decreased nerve conductio... ORPHA:206436
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic dysfunction, Op... ORPHA:309271
Kniest Dysplasia
Vitreoretinopathy, Rhegmatogenous retinal detachment, Retinal detachment, Lattice retinal degener... ORPHA:485
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Pigmentary retinopathy, Abnormality of macular pigmentation, Macular colobo... ORPHA:79282
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Zika Virus Disease
Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling, Abnormality of ... ORPHA:448237
Hurler Syndrome
Retinal degeneration OMIM:607014
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Foveal hyporefl... ORPHA:71505
Trichothiodystrophy
Retinal degeneration, Macular degeneration ORPHA:33364
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Retinal detachment, Macular degeneration ORPHA:1571
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio... ORPHA:247234
Cockayne Syndrome A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Retinal atrophy, Re... OMIM:216400
Cockayne Syndrome Type 3
Retinal degeneration, Retinal hemorrhage, Retinal atrophy, Optic disc pallor, Retinal dystrophy, ... ORPHA:90324
White-Sutton Syndrome
Abnormality of visual evoked potentials, Optic nerve hypoplasia, Rod-cone dystrophy OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Retinal atrophy, Optic atrophy OMIM:236670
Mogs-Cdg
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Retinal degeneration, Optic atrophy, Pigmentary retinopathy ORPHA:581
Cockayne Syndrome
Retinal degeneration, Retinal hemorrhage, Abnormality of retinal pigmentation, Decreased nerve co... ORPHA:191
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Abnormality of retinal pigmentation, Decreased nerve conductio... ORPHA:580
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Abnormal fundus morphology, Macular degeneration ORPHA:94147
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Retinal degeneration, Optic atrophy OMIM:234200
Farber Disease
Cherry red spot of the macula, Macular degeneration ORPHA:333
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Abnormality of visual evoked potentials, Optic ne... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy ORPHA:2785
Cockayne Syndrome B
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:133540
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Xq21 Microdeletion Syndrome
Reticular pigmentary degeneration, Chorioretinal degeneration, Abnormal chorioretinal morphology,... ORPHA:1435
Say-Barber-Miller Syndrome
Rod-cone dystrophy, Macular degeneration, Optic atrophy ORPHA:3132
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Non-Specific Syndromic Intellectual Disability
Retinal atrophy, Papilledema ORPHA:528084
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Alström Syndrome
Retinal pigment epithelial atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Drusen, Retinal d... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rp1.

No publications found that use IMPC mice or data for Rp1.

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MGI Allele Allele Type Produced
Rp1tm466531(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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