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Gene: Idh3a MGI:1915084

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Gene Summary

Name:
isocitrate dehydrogenase 3 (NAD+) alpha
Synonyms:
1500012E04Rik

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
preweaning lethality, complete penetrance Idh3aem1(IMPC)Kmpc HOM   Early adult 0.00

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Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Idh3a 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 Idh3a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... OMIM:619007
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791

The table below shows human diseases predicted to be associated to Idh3a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment OMIM:126600
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... OMIM:603649
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss OMIM:615439
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Stargardt Disease 3
Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment, Macular flecks OMIM:600110
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy 9
Cone/cone-rod dystrophy, Visual impairment OMIM:612775
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Retinal atrophy, Retinal pigment epithelial atrophy... ORPHA:59181
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Vis... OMIM:609923
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Central scotoma, Retinal pigment epithelial mottling, Reduced visual acu... OMIM:600977
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Blindness, Retinal atrophy, Retinal dystrophy, Nyctalopi... OMIM:180210
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Visual loss, Nyc... ORPHA:75377
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Peripheral Cone Dystrophy
Pericentral scotoma, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration,... OMIM:609021
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... OMIM:616544
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... OMIM:610381
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Macular atrophy, Peripheral retinal a... OMIM:613862
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... OMIM:620342
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... ORPHA:85128
Retinitis Pigmentosa 11
Optic disc pallor, Blindness, Constriction of peripheral visual field, Bone spicule pigmentation ... OMIM:600138
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity, Hypermetropia OMIM:611809
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:613660
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... OMIM:264420
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Chorioretinal ... OMIM:143200
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:618144
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... OMIM:619007
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual a... OMIM:613731
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Metamorphopsia, Peripapillary chorioretinal ... ORPHA:75376
Retinitis Pigmentosa 80
Blindness, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Achromatopsia
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... ORPHA:49382
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Exudative vitreoretinopathy, Retinal hole, Retinal fol... OMIM:605750
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:614500
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Myopia, Chorioretinal dystrophy, Chorioretinal atrophy, Visual impairment OMIM:600790
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... ORPHA:1852
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:617304
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Scintillating s... ORPHA:97341
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Oguchi Disease
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... ORPHA:75382
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Lattice retinal degeneration, Vitreous floaters... OMIM:614292
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Abnormality of vision, Retinal nonattachment, Vitelliform-like macular lesio... ORPHA:99000
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Retinitis Pigmentosa 23
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:300424
Birdshot Chorioretinopathy
Arcuate scotoma, Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Cho... ORPHA:179
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613983
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment OMIM:617236
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Reduced visual acuity, Absent foveal r... OMIM:615147
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration OMIM:204500
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... ORPHA:52427
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R... OMIM:204200
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment, High myopia OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Myopia, Blindness, Constriction of peripheral visual field, Retinal atro... OMIM:617406
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... OMIM:300476
Congenital Glaucoma
Retinal detachment, Visual loss ORPHA:98976
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinopathy Of Prematurity
Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascular morphology, Abnormal macular ... ORPHA:90050
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Red-green ... ORPHA:67042
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618195
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... OMIM:616108
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Scotoma, Mac... OMIM:217080
Leber Congenital Amaurosis 15
Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua... OMIM:613843
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration OMIM:256730
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Exudative Vitreoretinopathy 6
Myopia, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment ... OMIM:616468
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Coloboma Of Macula
Macular coloboma OMIM:120300
Myopia 28, Autosomal Recessive
Retinal detachment, High myopia OMIM:619781
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration OMIM:615993
Nephronophthisis 14
Retinal degeneration OMIM:614844
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration OMIM:520000
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia OMIM:615960
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Subretinal exudate, Peripheral retinal avascularization, Peripheral vitreous ... OMIM:305390
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Choroidal neovascularization OMIM:608895
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... OMIM:618697
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Mucolipidosis Iv
Photophobia, Retinal degeneration, Optic atrophy, Visual impairment OMIM:252650
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy, Progressive visual loss OMIM:164500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Ring scotoma, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia ORPHA:370022
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, High myopia, High hyper... OMIM:619260
Hsd10 Mitochondrial Disease
Visual loss, Optic atrophy, Retinal degeneration OMIM:300438
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy ORPHA:816
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration, Visual impairment OMIM:604360
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:249270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Retinopathy, Visual impairment OMIM:616171
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration, Reduced visual acuity, Visual impairment OMIM:270700
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... ORPHA:79264
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... OMIM:615994
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Retinal atrophy, Rod-cone dystrophy OMIM:610127
Cancer-Associated Retinopathy
Optic disc pallor, Constriction of peripheral visual field, Retinal atrophy, Photopsia, Retinal p... ORPHA:71505
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Reduced visual acuity, Macular atrophy OMIM:615434
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... ORPHA:436245
Hsd10 Disease, Infantile Type
Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Visual imp... ORPHA:1433
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Scheie Syndrome
Retinal degeneration OMIM:607016
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... ORPHA:168549
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of vision, Optic atrophy, Retinal degeneration ORPHA:442835
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:616307
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Bull's eye maculopathy, Rod-cone dystrophy, Nyctalopia, Optic atrophy, Peripheral visu... ORPHA:157850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Reduced visual acuity, Visual impairment OMIM:615249
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Reduced visual acuity, Angioid streaks of the f... OMIM:264800
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Reduced visual acuity, Retinal degeneration ORPHA:168491
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Retinal hemorrhage, Reduced visual acuity, Angioid streaks of the fundus, Macular degener... OMIM:177850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... ORPHA:94147
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Diplopia ORPHA:284289
Aceruloplasminemia
Retinal degeneration OMIM:604290
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Visual field defect ORPHA:166035
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... OMIM:250410
Bardet-Biedl Syndrome 1
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular ... OMIM:209900
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Peripheral visual field loss ORPHA:79244
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Knobloch Syndrome
Myopia, Retinal detachment, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... ORPHA:1571
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... ORPHA:485
Nephronophthisis 11
Retinal degeneration OMIM:613550
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Vis... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Blindness, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Re... OMIM:236670
Mucopolysaccharidosis Type 3
Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Pigmentary... ORPHA:581
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Visual impairment ORPHA:2822
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Trichothiodystrophy
Photophobia, Myopia, Macular degeneration, Retinal degeneration ORPHA:33364
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Hypermetropia, Photoph... ORPHA:90324
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Mucopolysaccharidosis Type 2
Papilledema, Large central visual field defect, Abnormality of retinal pigmentation, Abnormal fov... ORPHA:580
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... ORPHA:191
Werner Syndrome
Retinal degeneration OMIM:277700
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Myopia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal dege... OMIM:253280
Hurler Syndrome
Retinal degeneration OMIM:607014
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Macular degeneration ORPHA:247234
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Visual impairment OMIM:618479
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Hypermetropia, Pigmentary re... OMIM:216400
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy, High myopia ORPHA:97297
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst... OMIM:266920
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... 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 Idh3a

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 Idh3a.

No publications found that use IMPC mice or data for Idh3a.

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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
Idh3atm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Idh3atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Idh3aem1(IMPC)Kmpc Exon Deletion Mice

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