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Gene: Cngb1 MGI:2664102

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cyclic nucleotide gated channel beta 1

Synonyms:

BC016201, Cngb1, Cngb1b

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Cngb1 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.

Human diseases associated with Cngb1 (2 diseases)
Human diseases predicted to be associated with Cngb1 (357 diseases)

The table below shows human diseases associated to Cngb1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Retinitis Pigmentosa 45		Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Retinitis Pigmentosa		Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791

The table below shows human diseases predicted to be associated to Cngb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Coloboma Of Macula	Macular coloboma	OMIM:120300
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph...	OMIM:609033
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Failure to thrive, Optic atrophy	ORPHA:2971
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Fai...	ORPHA:508093
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Optic atrophy, Abnormality of visual evoked potentials, C...	ORPHA:702
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:585
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma	ORPHA:2510
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy	OMIM:222300
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Freckling, Optic atrophy	OMIM:610651
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy	OMIM:203800
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ...	OMIM:209900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Cockayne Syndrome Type 1	Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule	ORPHA:90321
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Pigmentary retinopathy	OMIM:214100
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret...	ORPHA:79282
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614866
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:505248
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic...	ORPHA:191
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:580
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Melas	Pigmentary retinopathy, Optic atrophy, Vitiligo	ORPHA:550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation	ORPHA:175
Mucopolysaccharidosis Type 3	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:581
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin	OMIM:234200
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Cockayne Syndrome A	Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of skin pigmenta...	OMIM:216400
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	ORPHA:404454
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo	OMIM:251260
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm...	OMIM:219800
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina...	ORPHA:744
Cockayne Syndrome B	Abnormality of skin pigmentation, Pigmentary retinopathy, Optic atrophy	OMIM:133540
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy	OMIM:606721
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia	ORPHA:3455

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 Cngb1

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 Cngb1.

No publications found that use IMPC mice or data for Cngb1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cngb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cngb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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