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Gene: Ncam1 MGI:97281

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Gene Summary

Name:
neural cell adhesion molecule 1
Synonyms:
NCAM-180,  NCAM,  NCAM-120,  CD56,  E-NCAM,  NCAM-140,  NCAM-1

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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
decreased body weight Ncam1tm1Cgn HOM Early adult 3.31×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Ncam1 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 Ncam1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone-Rod Dystrophy 9
Visual impairment, Cone/cone-rod dystrophy OMIM:612775
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
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
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
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
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
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
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
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
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
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
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
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
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
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Visual field defect, Reduced visual acuity, Macular dystrophy, ... OMIM:153840
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Abnormality of visi... ORPHA:99000
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
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
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Blind-spot enl... ORPHA:179
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Prolonged Electroretinal Response Suppression 1
Color vision defect, Difficulty adjusting to changes in luminance, Bradyopsia, Abnormal fundus mo... OMIM:608415
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Yell... OMIM:169150
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment, Abnormality of retinal pigmentation ORPHA:16
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Con... OMIM:300476
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalopia, Rod-co... OMIM:614180
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field defect, Ret... OMIM:613731
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... OMIM:616188
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Visual impairment, Myopia, Abnormality of retinal pigmentation ORPHA:1574
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Cone-Rod Dystrophy 17
Central scotoma, Cone/cone-rod dystrophy, Optic disc pallor, Photophobia, Visual impairment OMIM:615163
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Rod-cone dystrophy, Nyctalopia OMIM:614494
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Reduced visual acuity, Amblyopia, Retinal pigment epithelial mott... OMIM:300814
Night Blindness, Congenital Stationary, Type 1G
Constriction of peripheral visual field, Rod-cone dystrophy, Optic disc pallor, Visual impairment... OMIM:616389
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Blindn... ORPHA:90050
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Metamorphopsia, Blurred vision, Visual field defe... ORPHA:209956
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
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 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... OMIM:614292
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 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy, High myo... OMIM:312600
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Pigmented Paravenous Chorioretinal Atrophy
Hypermetropia, Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretin... OMIM:172870
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment, Retinal flecks OMIM:228980
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 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar dysplasia, Partial agenesis of the corpus callosum, Cerebe... OMIM:604213
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
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 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Nyct... OMIM:312612
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Stickler Syndrome, Type V
High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
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
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
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
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Retinitis Pigmentosa 46
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:612572
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripheral visual ... OMIM:613983
Morning Glory Disc Anomaly
Amblyopia, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epiretinal me... ORPHA:891
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... OMIM:210370
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal best... ORPHA:67042
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Optic disc pal... OMIM:613581
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, ... OMIM:615771
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Birdshot Chorioretinopathy
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... OMIM:605808
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,... ORPHA:364055
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Cataract 21, Multiple Types
Macular hypoplasia, High myopia, Retinal detachment OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R... OMIM:615960
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Agenesis of corpus callosum, Cereb... OMIM:613153
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Blurred vision, Retinal vasculitis, Retinal detach... OMIM:107320
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Retinal detachment, Cerebell... OMIM:615181
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Retinal dysplasia, Poorly formed metencephalon OMIM:601374
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080

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 Ncam1

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 Ncam1.

No publications found that use IMPC mice or data for Ncam1.

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
Ncam1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ncam1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ncam1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ncam1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ncam1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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