banner
Genes Phenotypes Help, News, Blog

Gene: Erc2 MGI:1098749

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Subretinal fluid, Reduced visual acuity, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:617111
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... OMIM:605750
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Blind-spot enl... ORPHA:179
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Abnormality of visi... ORPHA:99000
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Con... OMIM:300476
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Yell... OMIM:169150
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... OMIM:616188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field defect, Ret... OMIM:613731
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment, Abnormality of retinal pigmentation ORPHA:16
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Blindn... ORPHA:90050
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Optic Atrophy 5
Optic atrophy, Slow decrease in visual acuity, Constriction of peripheral visual field, Abnormali... OMIM:610708
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Metamorphopsia, Blurred vision, Visual field defe... ORPHA:209956
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... OMIM:614292
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy, High myo... OMIM:312600
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Diplopia, Rod-cone dystrophy, Myopia, Visual impairment, ... ORPHA:75382
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Myopia, Retinal detachment, Retinopathy ORPHA:90654
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Leber Congenital Amaurosis 9
Optic atrophy, Color vision defect, Retinal pigment epithelial mottling, Ultra-low vision, Attenu... OMIM:608553
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Visual loss, Retinopathy, Abnormal poste... ORPHA:94058
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Retinitis Pigmentosa 23
Color vision defect, Severely reduced visual acuity, Constriction of peripheral visual field, Att... OMIM:300424
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Stickler Syndrome, Type V
High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Bull's eye maculop... OMIM:180105
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... OMIM:251270
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epiretinal me... ORPHA:891
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripheral visual ... OMIM:613983
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Morning Glory Disc Anomaly
Amblyopia, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Retinitis Pigmentosa 46
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:612572
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... OMIM:210370
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal best... ORPHA:67042
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,... ORPHA:364055
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Optic disc pal... OMIM:613581
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Birdshot Chorioretinopathy
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... OMIM:605808
Cataract 21, Multiple Types
Macular hypoplasia, High myopia, Retinal detachment OMIM:610202
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Nephronophthisis 14
Retinal degeneration OMIM:614844
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Peripheral visual field loss, Abnormality of... ORPHA:791
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Blurred vision, Retinal vasculitis, Retinal detach... OMIM:107320
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Progressive Supranuclear Palsy
Memory impairment, Depression, Emotional lability, Irritability, Cognitive impairment, Dementia, ... ORPHA:683
Norrie Disease
Optic atrophy, Blindness, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374

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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter