Gene Summary

Name:
calcium channel, voltage-dependent, alpha 2/delta subunit 4
Synonyms:
5730412N02Rik

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
abnormal retina morphology Cacna2d4em1(IMPC)J HOM Early adult 9.01×10-06
abnormal retina blood vessel morphology Cacna2d4em1(IMPC)J HOM Early adult 9.93×10-07
hyperactivity Cacna2d4em1(IMPC)J HOM Early adult 1.03×10-07

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Cacna2d4 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.

The table below shows human diseases associated to Cacna2d4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cacna2d4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
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
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Immunodeficiency 8
Hyperactivity OMIM:615401
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials OMIM:616648
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... ORPHA:1215
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity OMIM:619470
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity OMIM:274270
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials OMIM:601152
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials OMIM:245200
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Undetectable visual evoked potentials, Optic disc pallor, Aplasia/Hypoplasia o... ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials ORPHA:485421
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials OMIM:229300
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:52368
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormality of visual evoked potentials OMIM:231550
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:480898
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials ORPHA:35069
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Infantile Krabbe Disease
Optic atrophy, Abnormality of visual evoked potentials, Cherry red spot of the macula ORPHA:206436
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309271
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
White-Sutton Syndrome
Optic nerve hypoplasia, Abnormality of visual evoked potentials, Rod-cone dystrophy OMIM:616364
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials ORPHA:79330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
Histidinemia
Hyperactivity ORPHA:2157
Cockayne Syndrome A
Retinal pigment epithelial mottling, Abnormality of visual evoked potentials, Pigmentary retinopa... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal retinal vascular morphology, Hypermyelinated retinal nerve fibers, Abn... ORPHA:909
Cockayne Syndrome B
Optic atrophy, Abnormality of visual evoked potentials, Pigmentary retinopathy OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512

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 Cacna2d4

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 Cacna2d4.

No publications found that use IMPC mice or data for Cacna2d4.

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MGI Allele Allele Type Produced
Cacna2d4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacna2d4em1(IMPC)J Exon Deletion Mice
Cacna2d4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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