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Gene: Cib3 MGI:2685953

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Gene Summary

Name:
calcium and integrin binding family member 3
Synonyms:
KIP3,  C730014M21Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Cib3em1(IMPC)H HOM   Late adult 2.11×10-06
abnormal ear morphology Cib3em1(IMPC)H HOM Early adult 7.75×10-07
abnormal retina vasculature morphology Cib3em1(IMPC)H HOM Late adult 2.79×10-06
cataract Cib3em1(IMPC)H HOM Early adult 8.68×10-05
increased circulating amylase level Cib3em1(IMPC)H HOM Late adult 8.64×10-05
decreased exploration in new environment Cib3em1(IMPC)H HOM Early adult 1.45×10-09
decreased locomotor activity Cib3em1(IMPC)H HOM Early adult 1.20×10-07
abnormal optic disk morphology Cib3em1(IMPC)H HOM Late adult 2.79×10-06
trunk curl Cib3em1(IMPC)H HOM Late adult 1.74×10-11
abnormal retina blood vessel morphology Cib3em1(IMPC)H HOM Late adult 2.79×10-06
persistence of hyaloid vascular system Cib3em1(IMPC)H HOM Late adult 2.87×10-06
trunk curl Cib3em1(IMPC)H HOM Middle aged adult 1.91×10-08

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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.

Echo

M-Mode Images

100 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Cib3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cib3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
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
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Hearing impairment OMIM:274205
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Hearing impairment OMIM:300719
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Ataxia, Gait disturbance ORPHA:2815
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Cataract 42
Cataract, Developmental cataract OMIM:115900
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Pellagra-Like Syndrome
Cataract, Ataxia, Confusion OMIM:260650
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentration OMIM:608611
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Trichomegaly
Cataract OMIM:190330
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Unsteady gait, Cataract OMIM:620312
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration ORPHA:3233
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spastic Paraparesis And Deafness
Cataract, Hearing impairment OMIM:312910
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia OMIM:616859
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Usher Syndrome Type 3
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Asti... ORPHA:231183
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Optic Atrophy 6
Optic atrophy OMIM:258500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Depression, Dementia, Adult onset sensorineural hearing impairment, Cognitive i... ORPHA:329314
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Dystonia 31
Abnormal posturing OMIM:619565
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Galactosemia Iv
Cataract OMIM:618881
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels OMIM:617082
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Camos Syndrome
Optic atrophy ORPHA:83472
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Galactosemia Ii
Cataract OMIM:230200
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Usher Syndrome Type 1
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Iris... ORPHA:231169
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
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
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Merrf
Optic atrophy ORPHA:551
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... ORPHA:1021
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Optic atrophy, Premature graying of hair, Abnormal optic nerve morpholo... ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Macrotia, Cataract, Posteriorly rotated ears OMIM:618392
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Abnormal posturing, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... OMIM:224050
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Cataract 47
Microcornea, Cataract OMIM:612018
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Hearing impairment OMIM:120433
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy OMIM:617086
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Optic atrophy OMIM:618688
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow OMIM:617121
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy OMIM:618800
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Sarcosinemia
Hypersarcosinemia, Optic atrophy ORPHA:3129
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration OMIM:300438
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Proximal Myotonic Myopathy
Cataract ORPHA:606
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Optic disc pallor, Hyperprolinemia OMIM:619170
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud... ORPHA:457205
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Low posterior hairline ORPHA:3456
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy, Long eyelashes OMIM:617276
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Lissencephaly 8
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Classic Phenylketonuria
Cataract, Depression, Attention deficit hyperactivity disorder, Mental deterioration, Memory impa... ORPHA:79254
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase ORPHA:401768
Woods Syndrome
Frontal hirsutism, Optic atrophy, Supernumerary nipple OMIM:615236
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, ... OMIM:310600
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Sensory ... OMIM:608804
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Sensorineural hearing impairment, Dysmetria, Subcapsular cataract OMIM:612674
Srd5A3-Cdg
Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Rod-cone dystrophy, Hyp... ORPHA:324737
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia ORPHA:2801
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Elevated circulating propionylcar... OMIM:614857
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple ORPHA:1173
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Usher Syndrome Type 2
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Iris hypopigmentation ORPHA:231178
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivi... OMIM:278730
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Cataract, Dysmetria OMIM:619780
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Cataract, Corneal opacity, Confusion, Ataxia, Depression ORPHA:309288
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration ORPHA:588
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
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 Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating... ORPHA:95433
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Hypoparathyroidism, Familial Isolated, 1
Irritability, Cataract OMIM:146200
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic disc pallor, Optic atrophy, Optic neuropathy OMIM:618249
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Spinocerebellar Ataxia Type 13
Optic disc pallor, Optic atrophy, Titubation ORPHA:98768
Walker-Warburg Syndrome
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal circulati... ORPHA:899
Vici Syndrome
Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al... OMIM:242840
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... ORPHA:247691
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Facial palsy OMIM:128100
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... OMIM:613154
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... ORPHA:96180
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Papilledema, Elevated circulating creatine kinase concentration OMIM:618775
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Mental deterioration, Memory impa... ORPHA:314404
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Alopecia, Supernumerary nipple, Retinal vascular pro... OMIM:308300
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... ORPHA:3205
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Oculoauricular Syndrome
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... OMIM:612109
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... OMIM:259900
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Hirsutism, Highly arched e... ORPHA:293967
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy OMIM:601539
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia OMIM:127000
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
Phace Association
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome OMIM:606519
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Hypercholesterolemia OMIM:619471
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple ORPHA:397715
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Hypertrichosis OMIM:266270
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Azotemia OMIM:619321
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Neuroocular Syndrome
Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eye... OMIM:619539
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Laterally curved eyebrow, Iris colob... OMIM:300166
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
7Q11.23 Microduplication Syndrome
Sparse anterior scalp hair, Abnormal optic disc morphology, Long eyelashes, Horizontal eyebrow ORPHA:96121

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 Cib3

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 Cib3.

No publications found that use IMPC mice or data for Cib3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cib3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cib3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cib3em2(IMPC)H Exon Deletion Mice
Cib3em1(IMPC)H Exon Deletion Mice

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