Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
catenin alpha 2
Synonyms:
chp,  alpha(N)-catenin,  alpha N-catenin,  Catna2,  catenin (cadherin associated protein), alpha 2,  Catna

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ctnna2 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 Ctnna2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Delayed early-childhood social milestone development, Cerebellar hypoplasia, H... OMIM:618174

The table below shows human diseases predicted to be associated to Ctnna2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hearing impairment, Gait ataxia, Tr... ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... OMIM:615768
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... ORPHA:284332
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spinocerebellar Ataxia 14
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Attention de... OMIM:605361
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria... OMIM:617145
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... OMIM:616053
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia... OMIM:604326
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... OMIM:616948
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia... OMIM:615889
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dementia, Dystonia, Chor... OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Cerebellar atrophy, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality ... OMIM:615362
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Partial a... OMIM:604213
Dystonia 22, Juvenile-Onset
Mental deterioration, Cerebellar atrophy, Dysdiadochokinesis, Generalized dystonia, Laryngeal dys... OMIM:620453
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Delaye... ORPHA:208513
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Leukodystrophy, Hypomyelinating, 21
Mental deterioration, Cerebellar atrophy, Failure to thrive, Tetraparesis, Hypogonadotropic hypog... OMIM:619310
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Motor dete... OMIM:256731
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Mental deterioration, Cerebellar atrophy, Resti... OMIM:617225
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Mental deterioration, Cerebellar atrophy, Heari... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... OMIM:248900
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia 48
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... OMIM:618093
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Primary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, At... OMIM:212840
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tre... OMIM:611302
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Cerebellar atrophy, Hearing impairment, Reduced sperm motility, Dementia, Diffi... ORPHA:320391
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cogn... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Myoc... OMIM:607136
Spinocerebellar Ataxia 50
Memory impairment, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Chorea, Pos... OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... ORPHA:512260
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Impaired vibration sensati... OMIM:159550
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... ORPHA:1170
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Gait ataxia, Dysme... OMIM:611390
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Hearing i... OMIM:300623
Spinocerebellar Ataxia Type 27
Memory impairment, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Ga... ORPHA:98764
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... OMIM:617560
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Cerebellar atrophy, Chore... ORPHA:98759
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Cognitive i... OMIM:615157
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... OMIM:613280
Boucher-Neuhauser Syndrome
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Hypogonadotr... OMIM:215470
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C... OMIM:117360
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility OMIM:613909
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Prog... ORPHA:276183
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:208920
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Hearing impairment, Limb ataxia, Limb dysmetria, Myoclonus, Gait ... OMIM:605259
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Frequent falls, Dysdiad... OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Weight loss, Clonus, Cognitive ... OMIM:301310
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic movem... OMIM:619738
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Hypertonia OMIM:250800
Spinocerebellar Ataxia 21
Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait a... OMIM:607454
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, R... OMIM:137440
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... OMIM:183086
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spas... OMIM:604391
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... ORPHA:397946
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... OMIM:616267
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Fasciculations, Tr... OMIM:620327
Tay-Sachs Disease
Memory impairment, Cerebellar atrophy, Hearing impairment, Fasciculations, Incoordination, Inabil... ORPHA:845
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Polycythemia, Difficulty walking, Action tremor, Splenomegaly, Rigidity, Dys... ORPHA:309854
Ataxia With Vitamin E Deficiency
Short term memory impairment, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired prop... OMIM:277460
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Abcd Syndrome
Polycythemia, Large for gestational age, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia, Sensorineural hearing impairment OMIM:616490
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Delayed early-childhood social milestone development, Cerebellar hypoplasia, H... OMIM:618174
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Poems Syndrome
Hyperesthesia, Polycythemia, Hypogonadism, Paresthesia, Splenomegaly, Weight loss, Thrombocytosis... ORPHA:2905
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase... OMIM:263400
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Splenomegaly, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis OMIM:612126
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Death in childhood, Agenesis of co... OMIM:613153
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Spasticity, Facial-lingual fasciculations, Macrotia, Myoclonus, Dys... OMIM:617281
Polycythemia Vera
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Splenomegaly, Tinnitus, Weight loss, Thr... ORPHA:729
Von Hippel-Lindau Syndrome
Sensorineural hearing impairment, Tinnitus, Polycythemia, Cerebellar hemangioblastoma OMIM:193300
Down Syndrome
Neutrophilia, Conductive hearing impairment, Impaired pain sensation, Polycythemia, Obesity, Decr... ORPHA:870
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Cognit... ORPHA:309246
Livedoid Vasculopathy
Hyperesthesia, Polycythemia, Pancytopenia, Paresthesia, Leukocytosis, Anemia ORPHA:542643
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Spasticity, Failure to thrive, Lower ... OMIM:616881
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Low-set ears, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicula... OMIM:620451
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Failure to thrive, Dilated fourth ventricle... OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Failure to thrive, Inability to walk, Chorea, Short attention span, Hypertonia, Exagg... OMIM:617864
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Low-set, posteriorly rotated ears, Abnormality of extrapyramidal motor functio... ORPHA:521426
Fumarase Deficiency
Polycythemia, Failure to thrive, Agenesis of corpus callosum OMIM:606812
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Exaggerated sta... OMIM:253800
Sandhoff Disease
Ataxia, Spasticity, Fasciculations, Progressive psychomotor deterioration, Impaired temperature s... OMIM:268800
Beckwith-Wiedemann Syndrome
Otosclerosis, Chiari malformation, Hearing impairment, Abnormal earlobe morphology, Polycythemia,... ORPHA:116
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, D... OMIM:272750
Von Hippel-Lindau Disease
Polycythemia, Cerebellar hemangioblastoma ORPHA:892
Ogden Syndrome
Low-set ears, Polycythemia, Recurrent otitis media, Protruding ear, Iron deficiency anemia, Hyper... OMIM:300855
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Ataxia ORPHA:33574
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hypertonia, Exaggerated startle res... OMIM:618367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Stiff-Person Syndrome
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia, Frequent falls OMIM:184850
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Hypertonia, Exaggerated startle response OMIM:272800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ... OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Abnormal ... ORPHA:438216
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response, Rigidity ORPHA:3198
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Failure to thrive, Rigidity, Abnormality of extrapyramidal motor function, Babinski... OMIM:617527
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Hearing impairment, Exaggerated startle response OMIM:620114
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hyperekplexia 3
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Sandhoff Disease, Infantile Form
Spasticity, Hepatosplenomegaly, Myoclonus, Exaggerated startle response ORPHA:309155
Hyperekplexia 1
Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response OMIM:149400
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Tremor, Schistocytosis, Thrombocyt... OMIM:274150
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Clonus, Hypertonia, Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Low-set ears, Spasticity, Hearing impairment, Hepatosplenomegaly, Exaggerated startle response, D... ORPHA:79255
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Vaginitis, Leukocytosis, Otitis media, Impair... ORPHA:2968
Abetalipoproteinemia
Impaired vibratory sensation, Broad-based gait, Failure to thrive, Positive Romberg sign, Gait at... ORPHA:14
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Myoclonus, Reticulocytosis, Leukocytosis, Anisocytosis, Po... OMIM:618278
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... ORPHA:232
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonus, Ankle clonus, Hypertonia, Exaggerated startle response, Thrombocytopenia, Dystonia OMIM:620423
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Polycythemia OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Polycythemia OMIM:187300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Involuntary movements, Inability to walk, Myoclonus, Exaggerated startle respon... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Chordee, Attention deficit hyperactivity disorder, Exaggerated startle response, Po... OMIM:619522

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 Ctnna2

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 Ctnna2.

No publications found that use IMPC mice or data for Ctnna2.

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
Ctnna2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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