Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ELKS/RAB6-interacting/CAST family member 2
Synonyms:
D14Ertd171e,  ELKS2alpha,  CAST

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Erc2 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 Erc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... ORPHA:827
Retinitis Pigmentosa 48
Visual impairment, Rod-cone dystrophy, Macular degeneration OMIM:613827
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... OMIM:608051
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Degeneration, Age-Related, 13
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar OMIM:615439
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... OMIM:618195
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... OMIM:616170
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinal Cone Dystrophy 1
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... OMIM:180020
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Choroidal neovascularization, Retinal pigment... ORPHA:97341
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels OMIM:618513
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Retinal degeneration OMIM:617879
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... OMIM:605750
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Peripheral Cone Dystrophy
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... OMIM:609021
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... ORPHA:85128
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss, Mizuo phenomenon, ... OMIM:312700
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... ORPHA:99000
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... ORPHA:179
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... OMIM:609923
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Exudative Vitreoretinopathy 6
Myopia, Exudative vitreoretinopathy, Progressive visual loss, Retinal detachment, Posterior vitre... OMIM:616468
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Attenuation of ... OMIM:613809
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Cleft Lip-Retinopathy Syndrome
Visual impairment, Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Exudative Vitreoretinopathy 5
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal exudat... OMIM:613310
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... ORPHA:209943
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... OMIM:610381
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Ch... OMIM:607921
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Wagner Vitreoretinopathy
Optic atrophy, Myopia, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, ... OMIM:143200
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... OMIM:300476
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Retinitis Pigmentosa 47
Rod-cone dystrophy, Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... OMIM:169150
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1871
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... OMIM:165500
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... ORPHA:180
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Visual impairment, Color vision defect, Photophobia, Nyctalopia ORPHA:1872
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Cone-Rod Dystrophy 17
Optic disc pallor, Central scotoma, Photophobia, Cone/cone-rod dystrophy, Visual impairment OMIM:615163
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Macular Degeneration, Age-Related, 1
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... OMIM:603075
Retinitis Pigmentosa 63
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:614494
Blue Cone Monochromatism
Blue cone monochromacy, Abnormality of retinal pigmentation, Visual impairment, Photophobia ORPHA:16
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment OMIM:607476
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Color vision defect, Photophobia, Ny... OMIM:600852
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Fundus atrophy, Attenuat... OMIM:613428
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... ORPHA:141
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Attenuation of re... OMIM:614180
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... OMIM:210370
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Visual impairment, Optic atrophy, Abnormality of retinal pigmentation, Myopia ORPHA:1574
Idiopathic Uveal Effusion Syndrome
Retinal fold, Exudative retinal detachment, Metamorphopsia, Visual field defect, Reduced visual a... ORPHA:209956
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... OMIM:264420
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Progressive Bifocal Chorioretinal Atrophy
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Constriction of peripheral visual fie... OMIM:610478
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Myopia, Optically empty vitreous OMIM:609508
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... OMIM:608133
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Abnormality of retinal pigmentation, Rod-cone dystrophy,... OMIM:615780
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... OMIM:618826
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 2
Myopia, Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, ... OMIM:312600
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... OMIM:606068
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Leber Congenital Amaurosis 15
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... OMIM:613843
Microphthalmia, Isolated 5
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... OMIM:611040
Retinitis Pigmentosa 92
Visual impairment, Paracentral scotoma, Constriction of peripheral visual field, Pigmentary retin... OMIM:619614
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... ORPHA:411527
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Neovascular Glaucoma
Abnormality of the optic nerve, Retinal vascular proliferation, Visual acuity test abnormality, V... ORPHA:94058
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Central scotoma, Bull's eye maculopathy,... OMIM:604116
Stickler Syndrome Type 2
Myopia, Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... OMIM:305390
Retinitis Pigmentosa 4
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia OMIM:613731
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Oguchi Disease
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... ORPHA:75382
Retinitis Pigmentosa 1
Myopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of peripheral v... OMIM:180100
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Progressive v... ORPHA:1215
Retinitis Pigmentosa 77
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy OMIM:617304
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... ORPHA:284454
Retinitis Pigmentosa 51
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... OMIM:613464
Retinitis Pigmentosa 6
Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, Pigmenta... OMIM:312612
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Retinal Detachment
Retinal detachment OMIM:180050
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Stickler Syndrome, Type V
Vitreoretinopathy, High myopia, Retinal detachment OMIM:614284
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... OMIM:133780
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... ORPHA:352731
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... OMIM:601813
Retinitis Pigmentosa 86
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... OMIM:618613
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Microspherophakia With Hernia
Myopia, Retinal detachment OMIM:157150
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... OMIM:613767
Bornholm Eye Disease
Abnormality of retinal pigmentation, Protanopia, Deuteranopia, Amblyopia, Optic nerve hypoplasia,... OMIM:300843
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Nummular pigmentation of the fundus, Chorioretinal atrop... OMIM:618697
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Amblyopia ORPHA:35737
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:613756
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... ORPHA:436245
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... ORPHA:52427
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy OMIM:617236
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:618173
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:180105
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, ... ORPHA:96
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peri... OMIM:612572
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... OMIM:605549
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... OMIM:125310
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... OMIM:613581
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... OMIM:610283
Norrie Disease
Optic atrophy, Retinal fold, Retinal dysplasia, Retinal detachment, Blindness OMIM:310600
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macu... OMIM:145350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten... ORPHA:52368
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:2971
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis OMIM:605808
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials, Decreased sensory nerve conduction veloci... OMIM:229300
Nephronophthisis 14
Retinal degeneration OMIM:614844
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy, Blindness, Decreased nerve conduction vel... OMIM:245200
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction v... OMIM:256600
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Reduced visual acuity, Retinal atrophy OMIM:616722
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Abnormality of retinal pigmentation, Blindness ORPHA:171844
Cone-Rod Dystrophy 6
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... OMIM:601777
Retinitis Pigmentosa 74
Constriction of peripheral visual field, Optic disc pallor, Rod-cone dystrophy, Pigmentary retino... OMIM:616562
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Abnormality of visual evoked potentials, Retinal degeneration, Reduced visual acuity, Vis... ORPHA:168491
Uveal Melanoma
Abnormal fundus morphology, Metamorphopsia, Photopsia, Visual loss, Retinal detachment, Vitreous ... ORPHA:39044
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Retinal detachment, Retinal vasculitis, Blurred vi... OMIM:107320
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... ORPHA:485421
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Myopia, Abnormality of visual evoked potentials, Hypermetropia, Cerebral visual im... OMIM:616875
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Visual impairment ORPHA:702
White-Sutton Syndrome
Optic atrophy, Myopia, Abnormality of visual evoked potentials, Hypermetropia, Rod-cone dystrophy... OMIM:616364
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial at... OMIM:616959
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Myopia, Retinal detachment OMIM:223330
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral visual impairment, Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:480898
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... ORPHA:320401
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials, Blindness, Abnormality of peripheral nerv... ORPHA:35069
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Progressive visual loss, Abnormality of pattern visual evoked potentials, Optic disc pallor, Visu... ORPHA:1947
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Reduced visual acuity, Decreased nerve co... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Reduced visual acuity, Decreased nerve co... ORPHA:309263
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... ORPHA:423479
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Visual field defect, Rod-cone dystrophy, Nyctalopia, Abnormality of pattern... ORPHA:166035
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual loss, Blindn... ORPHA:206443
Infantile Krabbe Disease
Optic atrophy, Abnormality of visual evoked potentials, Cherry red spot of the macula, Decreased ... ORPHA:206436
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Dementia, Memory impairment, Cognitive impairment ORPHA:683
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Myopia, Abnormality of visual evoked potentials, Ocular albinism,... ORPHA:79430
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration, V... ORPHA:2822
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Abnormality of visual evoked potentials OMIM:614457
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory responses ORPHA:79330
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Hypermetropia, Abnormality of visual evoked p... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Hypermetropia, Abnormality of visual evoked p... OMIM:133540
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258

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 Erc2

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 Erc2.

No publications found that use IMPC mice or data for Erc2.

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MGI Allele Allele Type Produced
Erc2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Erc2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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