Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Ncam1tm1Cgn HOM Early adult 3.31×10-10

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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
Cone/cone-rod dystrophy, Visual impairment OMIM:612775
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
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Hyperintensity of cerebral white matter on MRI, Cognitive impairment OMIM:618564
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinitis Pigmentosa 48
Visual impairment, Rod-cone dystrophy, Macular degeneration OMIM:613827
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... OMIM:608051
Macular Degeneration, Age-Related, 13
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar OMIM:615439
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... OMIM:616170
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... ORPHA:827
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Choroidal neovascularization, Retinal pigment... ORPHA:97341
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... ORPHA:1852
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Retinal Cone Dystrophy 1
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... OMIM:180020
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
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
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Retinal degeneration OMIM:617879
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Attenuation of ... OMIM:613809
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... OMIM:605750
Cleft Lip-Retinopathy Syndrome
Visual impairment, Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... OMIM:153840
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... OMIM:618195
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... OMIM:609923
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... ORPHA:99000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, Microcephaly OMIM:615771
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Peripheral Cone Dystrophy
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... OMIM:609021
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Ch... OMIM:607921
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
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1871
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Retinitis Pigmentosa 47
Rod-cone dystrophy, Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Exudative Vitreoretinopathy 6
Myopia, Exudative vitreoretinopathy, Progressive visual loss, Retinal detachment, Posterior vitre... OMIM:616468
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... ORPHA:179
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... ORPHA:180
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Visual impairment, Color vision defect, Photophobia, Nyctalopia ORPHA:1872
Exudative Vitreoretinopathy 5
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal exudat... OMIM:613310
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Visual field defect, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... OMIM:610381
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... OMIM:169150
Blue Cone Monochromatism
Blue cone monochromacy, Abnormality of retinal pigmentation, Visual impairment, Photophobia ORPHA:16
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Retinitis Pigmentosa 80
Progressive visual loss, Macular atrophy, Blindness OMIM:617781
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... ORPHA:209943
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Color vision defect, Photophobia, Ny... OMIM:600852
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
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
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment OMIM:613093
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Fundus atrophy, Attenuat... OMIM:613428
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Attenuation of re... OMIM:614180
Cone-Rod Dystrophy 17
Optic disc pallor, Central scotoma, Photophobia, Cone/cone-rod dystrophy, Visual impairment OMIM:615163
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment OMIM:607476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly, Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Visual impairment, Optic atrophy, Abnormality of retinal pigmentation, Myopia ORPHA:1574
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Retinitis Pigmentosa 63
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:614494
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Progressive Bifocal Chorioretinal Atrophy
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Constriction of peripheral visual fie... OMIM:610478
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... OMIM:613750
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Abnormality of retinal pigmentation, Rod-cone dystrophy,... OMIM:615780
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Macular Degeneration, Age-Related, 1
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... OMIM:603075
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
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... OMIM:608133
Cone-Rod Dystrophy 20
Central scotoma, Reduced visual acuity, Constriction of peripheral visual field, Color vision def... OMIM:615973
Cone-Rod Dystrophy 12
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... OMIM:612657
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... OMIM:604213
Retinitis Pigmentosa 2
Myopia, Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, ... OMIM:312600
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Retinitis Pigmentosa 92
Visual impairment, Paracentral scotoma, Constriction of peripheral visual field, Pigmentary retin... OMIM:619614
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... OMIM:264420
Idiopathic Uveal Effusion Syndrome
Retinal fold, Exudative retinal detachment, Metamorphopsia, Visual field defect, Reduced visual a... ORPHA:209956
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... OMIM:210370
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... OMIM:606068
Retinitis Pigmentosa 78
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... OMIM:617433
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Myopia, Optically empty vitreous OMIM:609508
Retinitis Pigmentosa 4
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia OMIM:613731
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... OMIM:165500
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Central scotoma, Bull's eye maculopathy,... OMIM:604116
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... OMIM:618826
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... OMIM:180104
Retinitis Pigmentosa 1
Myopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of peripheral v... OMIM:180100
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of re... OMIM:608380
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Hypermetropia, Bone spicule pigmentation of the retina, Paravenous chorioretin... OMIM:172870
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Hypermetropia, Reduced visual acuity, Color vision d... ORPHA:215
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Retinitis Pigmentosa 6
Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, Pigmenta... OMIM:312612
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Stickler Syndrome Type 2
Myopia, Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... ORPHA:411527
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... ORPHA:141
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
Neovascular Glaucoma
Abnormality of the optic nerve, Retinal vascular proliferation, Visual acuity test abnormality, V... ORPHA:94058
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Visua... OMIM:615147
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Oguchi Disease
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... ORPHA:75382
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... OMIM:305390
Retinitis Pigmentosa 77
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy OMIM:617304
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Nummular pigmentation of the fundus, Chorioretinal atrop... OMIM:618697
Retinitis Pigmentosa 51
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... OMIM:613464
Bornholm Eye Disease
Abnormality of retinal pigmentation, Protanopia, Deuteranopia, Amblyopia, Optic nerve hypoplasia,... OMIM:300843
Stickler Syndrome, Type V
Vitreoretinopathy, High myopia, Retinal detachment OMIM:614284
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Hypermetropia, Pigmentary retinopathy OMIM:268060
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... ORPHA:284454
Poretti-Boltshauser Syndrome
Cerebellar cyst, Retinal atrophy, Dilated fourth ventricle, Retinal dystrophy, Cerebellar dysplas... OMIM:615960
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:613756
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
Retinitis Pigmentosa 86
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... OMIM:618613
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:618173
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... OMIM:133780
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... OMIM:601813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... OMIM:613767
Microspherophakia With Hernia
Myopia, Retinal detachment OMIM:157150
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peri... OMIM:612572
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Amblyopia ORPHA:35737
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Retinal Detachment
Retinal detachment OMIM:180050
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy OMIM:617236
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... OMIM:605549
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:180105
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... ORPHA:52427
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Color vision defect, Photophobia, Visual impa... ORPHA:1873
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencep... OMIM:615181
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Progressive v... ORPHA:1215
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... OMIM:602772
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... ORPHA:352731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... OMIM:610283
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:600132
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... OMIM:613581
Retinitis Pigmentosa 66
Optic disc pallor, Central scotoma, Reduced visual acuity, Visual impairment, Rod-cone dystrophy,... OMIM:615233
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Type II liss... OMIM:613154
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
Norrie Disease
Optic atrophy, Retinal fold, Retinal dysplasia, Retinal detachment, Blindness OMIM:310600
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Retinal dysplasia OMIM:614830
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:101070
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, ... ORPHA:96
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis OMIM:605808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Retinal dystrophy, Cerebellar hypoplasia, Hypoplasia of the corpus callosum... OMIM:613155
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Enhanced S-Cone Syndrome
Vitreoretinopathy, Hemeralopia, Macular edema, Pigmentary retinopathy, Retinoschisis, Nyctalopia OMIM:268100
Retinitis Pigmentosa 74
Constriction of peripheral visual field, Optic disc pallor, Rod-cone dystrophy, Pigmentary retino... OMIM:616562
Cone-Rod Dystrophy 6
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... OMIM:601777
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Reduced visual acuity, Retinal atrophy OMIM:616722
Joubert Syndrome 23
Cerebellar dysplasia, Dysplastic corpus callosum OMIM:616490
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Abnormality of retinal pigmentation, Blindness ORPHA:171844
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
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Retinal detachment, Retinal vasculitis, Blurred vi... OMIM:107320
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
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
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten... ORPHA:52368
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventricle, Inferior verm... ORPHA:370022
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:2971
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Myopia, Retinal detachment OMIM:223330
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials, Decreased sensory nerve conduction veloci... OMIM:229300
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction v... OMIM:256600
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Abnormality of visual evoked potentials, Retinal degeneration, Reduced visual acuity, Vis... ORPHA:168491
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Myopia, Abnormality of visual evoked potentials, Hypermetropia, Cerebral visual im... OMIM:616875
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
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
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral visual impairment, Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:480898
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Crome Syndrome
Cerebellar dysplasia, Microcephaly OMIM:218900
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Retinal dysplasia, Poorly formed metencephalon OMIM:601374
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Retinal atrophy, Cerebellar dysplasi... OMIM:236670
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Myopia, Abnormality of visual evoked potentials, Ocular albinism,... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Pachygyria, Cerebell... OMIM:613150
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Congenital stationary night blindness,... ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cerebellar cyst, Retinal degeneration, Retinal dysplasia, Retinal atrophy, Cerebel... OMIM:253280
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Cog1-Cdg
Temporal cortical atrophy, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Progressive microc... ORPHA:263508

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.

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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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