Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DS cell adhesion molecule like 1
Synonyms:
4930435C18Rik,  4921507G06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dscaml1 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 Dscaml1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Congenital Glaucoma
Retinal detachment ORPHA:98976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Retinal Detachment
Retinal detachment OMIM:180050
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment ORPHA:99000
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Retinal detachme... OMIM:251270
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Nephronophthisis 14
Retinal degeneration OMIM:614844
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Myopia, High, With Cataract And Vitreoretinal Degeneration
Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Facial palsy, Macular coloboma OMIM:107550
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Coloboma Of Macula
Macular coloboma OMIM:120300
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment OMIM:615113
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Retinal detachment OMIM:223330
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis OMIM:107320
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
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 Dscaml1

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 Dscaml1.

No publications found that use IMPC mice or data for Dscaml1.

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MGI Allele Allele Type Produced
Dscaml1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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