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Gene: Cacna2d4 MGI:2442632

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Gene Summary

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

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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
abnormal retina blood vessel morphology Cacna2d4em1(IMPC)J HOM Early adult 8.50×10-07
abnormal retina morphology Cacna2d4em1(IMPC)J HOM Early adult 1.04×10-05
hyperactivity Cacna2d4em1(IMPC)J HOM Early adult 1.01×10-07

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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

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, 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
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... 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
Hyperactivity, Chorioretinal degeneration OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, 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, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Immunodeficiency 8
Hyperactivity OMIM:615401
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Hyperactivity ORPHA:75858
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Retinal Detachment
Retinal detachment OMIM:180050
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Canavan Disease
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy ORPHA:141
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials OMIM:616648
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Abnormal retinal nerve fiber layer morphology, Temporal ... ORPHA:1215
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Abnormality of visual evoked potentials, Optic nerve misrouting, Depigme... ORPHA:352731
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked ... ORPHA:436245
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy OMIM:619470
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy OMIM:300983
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:601152
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials OMIM:245200
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy 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
Optic disc pallor, Macular coloboma, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Un... ORPHA:423479
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy ORPHA:485421
Micro Syndrome
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Retinal coloboma, O... ORPHA:2510
Optic Atrophy 11
Hyperactivity, Optic atrophy OMIM:617302
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
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
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:52368
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Optic atrophy OMIM:231550
Friedreich Ataxia
Abnormality of visual evoked potentials, Optic atrophy OMIM:229300
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy ORPHA:369939
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy ORPHA:35069
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Cherry red spot of the macula, Optic atrophy ORPHA:206436
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309271
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
White-Sutton Syndrome
Abnormality of visual evoked potentials, Optic nerve hypoplasia, Rod-cone dystrophy OMIM:616364
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Mucopolysaccharidosis, Type Iiic
Rod-cone dystrophy, Hyperactivity OMIM:252930
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Mogs-Cdg
Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Histidinemia
Hyperactivity ORPHA:2157
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691
47,Xyy Syndrome
Hyperactivity, Congenital stationary night blindness, Attention deficit hyperactivity disorder ORPHA:8
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Joubert Syndrome 1
Chorioretinal coloboma, Hyperactivity, Retinal dysplasia, Optic disc pallor, Retinal dystrophy, O... OMIM:213300
Cockayne Syndrome A
Abnormality of visual evoked potentials, Retinal atrophy, Retinal pigment epithelial mottling, Pi... OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Optic neuropathy, Optic disc pallor, Hypermyelinated ret... ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials, Optic atrophy, 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
Abnormality of visual evoked potentials, Optic nerve compression 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
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Hyperactivity, Retinal degeneration, Optic atrophy OMIM:234200

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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