Gene Summary

Name:
CDK2-associated protein 2
Synonyms:
5830466O21Rik

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
cataract Cdk2ap2em1(IMPC)J HOM Early adult 1.08×10-05
hyperactivity Cdk2ap2em1(IMPC)J HOM   Early adult 4.11×10-05

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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.

Phenotype associated images not available

Human diseases caused by Cdk2ap2 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 Cdk2ap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cataract OMIM:617133
Aniridia 3
Cataract OMIM:617142
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Trichomegaly
Cataract OMIM:190330
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Developmental cataract, Corneal dystrophy OMIM:271320
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:2815
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Galactosemia Ii
Cataract OMIM:230200
Aniridia 2
Cataract, Aniridia OMIM:617141
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 43
Subcapsular cataract OMIM:616279
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Nathalie Syndrome
Cataract OMIM:255990
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Xeroderma Pigmentosum, Complementation Group G
Cataract, Ataxia OMIM:278780
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cataract, Dysmetria, Broad-based gait OMIM:224050
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Retinitis Pigmentosa 84
Cataract OMIM:618220
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Gait disturbance ORPHA:1875
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Alg8-Cdg
Cataract ORPHA:79325
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Phenylketonuria
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Cataract, Spastic gait, Dysmetria OMIM:609195
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract, Ataxia ORPHA:231183
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Peroxisome Biogenesis Disorder 9B
Cataract, Ataxia OMIM:614879
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Retinitis Pigmentosa 4
Cataract OMIM:613731
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Iris hypopigmentation, Ataxia, Hyperactivity ORPHA:411515
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cataract, To... ORPHA:284289
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Dystonia, Juvenile-Onset
Cataract, Generalized dystonia OMIM:607371
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Retinitis Pigmentosa 2
Cataract OMIM:312600
Cataract 24
Anterior polar cataract OMIM:601202
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Gand Syndrome
Hyperactivity OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Hyperactivi... OMIM:256800
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Histidinemia
Hyperactivity ORPHA:2157
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Cahmr Syndrome
Lamellar cataract OMIM:211770
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization OMIM:278730
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Ataxia, Hyperactivity OMIM:601853
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity, Astigmatism ORPHA:168491
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Angelman Syndrome
Progressive gait ataxia, Blue irides, Broad-based gait, Hyperactivity OMIM:105830
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical cataract, Ataxia, C... ORPHA:67036
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Angelman Syndrome
Inability to walk, Keratoconus, Iris hypopigmentation, Ataxia, Hyperactivity, Astigmatism, Broad-... ORPHA:72
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Hyperactivity, Astigmatism, Limbal dermoid OMIM:600268
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Difficulty walking, Corneal scarring, Corneal ulceration, Hyperactivity ORPHA:642

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 Cdk2ap2

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 Cdk2ap2.

No publications found that use IMPC mice or data for Cdk2ap2.

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MGI Allele Allele Type Produced
Cdk2ap2em1(IMPC)J Exon Deletion Mice
Cdk2ap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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