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
hyperactivity Cdk2ap2em1(IMPC)J HOM   Early adult 4.11×10-05
increased vertical activity Cdk2ap2em1(IMPC)J HOM Early adult 3.85×10-05
cataract Cdk2ap2em1(IMPC)J HOM Early adult 7.11×10-06
decreased mean corpuscular hemoglobin Cdk2ap2em1(IMPC)J HOM Early adult 7.98×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hyperlysinemia, Type I
Anemia, Hyperactivity, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Aniridia 3
Cataract OMIM:617142
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Trichomegaly
Cataract OMIM:190330
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Morm Syndrome
Cataract, Hyperactivity ORPHA:75858
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Galactosemia Iv
Cataract OMIM:618881
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Galactosemia Ii
Cataract OMIM:230200
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels OMIM:248510
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Cataract 47
Microcornea, Cataract OMIM:612018
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Broad-based gait OMIM:224050
Phenylketonuria
Attention deficit hyperactivity disorder, Cataract, Blue irides, Hyperactivity OMIM:261600
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Nathalie Syndrome
Cataract OMIM:255990
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 11, Multiple Types
Cataract OMIM:610623
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Cataract OMIM:257790
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aniridia 2
Cataract, Aniridia OMIM:617141
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity OMIM:616977
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Iris hypopigmentation ORPHA:411515
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Glycine Encephalopathy
Hyperactivity OMIM:605899
Usher Syndrome Type 3
Cataract, Astigmatism, Ataxia, Iris hypopigmentation ORPHA:231183
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Unsteady gait OMIM:615516
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Spastic gait, Cataract, Ataxia, Tip-toe gait, Difficulty walking OMIM:609195
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Inability to walk, Splenomegaly, Ataxia, Hemolytic anemia OMIM:608885
Retinitis Pigmentosa 84
Cataract OMIM:618220
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder OMIM:614294
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Cataract, Progressive cerebellar ataxia, Truncal ataxia, Tortuosity of conjunctival ve... ORPHA:284289
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Broad-based gait OMIM:618805
Peroxisome Biogenesis Disorder 9B
Cataract, Ataxia OMIM:614879
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmune hemolytic anemia, Autoimm... ORPHA:760
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Hyperactivity, Keratitis, Opacification of the corneal stro... OMIM:256800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Shuffling gait ORPHA:3077
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Histidinemia
Hyperactivity ORPHA:2157
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Iris hypopigme... ORPHA:2720
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk ORPHA:500180
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Blue irides OMIM:614613
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia ORPHA:391307
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... ORPHA:231214
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Iris hypopigmentation, Gait imbalance, Broad-based gait ORPHA:98794
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly OMIM:252920
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:52503
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly OMIM:252900
Angelman Syndrome
Hyperactivity, Broad-based gait, Blue irides, Progressive gait ataxia OMIM:105830
X-Linked Adrenoleukodystrophy
Gait disturbance, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:43
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Bone Marrow Failure Syndrome 3
Pancytopenia, Astigmatism, Acute myeloid leukemia, Hyperactivity, Aplastic anemia OMIM:617052
Legius Syndrome
Cataract, Acute monocytic leukemia, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:137605
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Difficulty walking ORPHA:139396
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Cataract, Ataxia, Cerulean cataract, U... ORPHA:67036
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Attention deficit hyperactiv... ORPHA:330015
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Cataract, Iron deficiency anemia, Asplenia, Keratoconjunctivitis OMIM:269200
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hyperactivity, Limbal dermoid, Opacification of the corneal stroma OMIM:600268
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysmetria, Dysdiadochokinesis OMIM:610217
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Nijmegen Breakage Syndrome
T lymphocytopenia, Hyperactivity, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Akinesia, Ataxia, Acanthocytosis, Gait disturbance OMIM:234200
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Astigmatism, Hyperactivity, Ataxia, Unsteady gait, Gait ataxia, Broad-based gait, Atte... OMIM:614756

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.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cdk2ap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdk2ap2em1(IMPC)J Exon Deletion Mice
Cdk2ap2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter