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
hyperactivity Cacna2d4em1(IMPC)J HOM Early adult 1.01×10-07
abnormal retina blood vessel morphology Cacna2d4em1(IMPC)J HOM Early adult 3.17×10-07
abnormal retina morphology Cacna2d4em1(IMPC)J HOM Early adult 1.79×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Schizophrenia 15
Hyperactivity OMIM:613950
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691
Histidinemia
Hyperactivity ORPHA:2157

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.

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
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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