Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
engrailed 2
Synonyms:
En-2

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 En2 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 En2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... OMIM:615268
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 37
Unsteady gait, Cerebellar atrophy, Dysphagia, Ataxia OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sensation in the lower limbs,... ORPHA:171622
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Gait ataxia, Cerebellar atrophy ORPHA:217012
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Distal sensory impairment, Scissor gait,... ORPHA:101010
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608636
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Cerebellar atrophy, Chiari type I malformation, Impaired distal proprioception, Spastic g... OMIM:619742
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Dysphagia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Gait imbalance, Truncal ataxia, Progressive cerebel... OMIM:604432
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Tru... ORPHA:98764
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:607373
Autism
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:209850
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Dysphagia ORPHA:284271
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Cerebellar atrophy, Ataxia OMIM:600143
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Gait ataxia, Ataxia ORPHA:98769
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus OMIM:604213
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Dysmetria, Loss of ambulation, At... OMIM:613908
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Ataxia, Truncal ataxia, Unsteady gait OMIM:616948
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Dysmetria, P... ORPHA:284332
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Ataxia, Dysdi... OMIM:616291
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ata... OMIM:614229
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Ataxia OMIM:618876
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Impaired distal p... OMIM:617633
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia OMIM:616187
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Dysphagia, Impaired vibration sensation at ankles, Pr... OMIM:605361
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Spinocerebellar Ataxia Type 40
Broad-based gait, Gait ataxia, Pontocerebellar atrophy, Dysmetria, Unsteady gait, Dysdiadochokinesis ORPHA:423275
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Cerebellar atrophy, Dysphagia, Ataxia OMIM:302500
Spinocerebellar Ataxia 18
Progressive gait ataxia, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia, Unsteady gait OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Dysdiadochokinesis OMIM:615386
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ... ORPHA:101112
Epilepsy, Progressive Myoclonic, 8
Falls, Cerebellar atrophy, Limb ataxia, Gait disturbance, Truncal ataxia, Choreoathetosis OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia OMIM:608029
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... ORPHA:101070
Tremor, Hereditary Essential, 6
Cerebellar atrophy OMIM:618866
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Spinocerebellar Ataxia 44
Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Dysphagia, Dysdiadochokinesis OMIM:617691
Spinocerebellar Ataxia 26
Truncal ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:609306
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia ORPHA:512260
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Cerebellar atrophy, Dysmetria, Ataxia OMIM:610357
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Ataxia, Dysphagia, Chor... OMIM:618088
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait, Dysdiadochokinesis OMIM:619806
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Distal sensory impairment, Steppage gai... OMIM:607250
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Gordon Holmes Syndrome
Chorea, Cerebellar atrophy, Ataxia OMIM:212840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:615181
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:616531
Spinocerebellar Ataxia 19
Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Dysphagia, Progressive cerebellar a... OMIM:607346
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar vermis atr... OMIM:117360
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb atax... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Spinocerebellar Ataxia 21
Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop... OMIM:613155
Hsd10 Disease
Short attention span, Tremor, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Truncal ataxia, Dy... OMIM:616204
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Dystonia, Motor stereotypy, Reduced social reciprocity OMIM:617820
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Ataxia, Dysdiadochokinesis ORPHA:208513
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Emotional lability, Episodic ataxia OMIM:234500
Mitochondrial Complex I Deficiency, Nuclear Type 28
Gastroesophageal reflux, Cerebellar atrophy, Akinesia, Truncal ataxia, Choreoathetosis OMIM:618249
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Spastic ataxia, Ataxia, Spas... OMIM:616795
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Gait ataxia, Inability to walk, Ataxia OMIM:617915
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Intention tremor, Reduced social reciprocity, Ataxia ORPHA:137831
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity, Hyperinsulinemia ORPHA:329249
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Tremor, Dysmetria, Hyperactivity, Delayed early-childhood social milestone development OMIM:618090
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Spinocerebellar Ataxia 15
Truncal ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:606658
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Cerebellar atrophy, Ataxia OMIM:612020
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Reduced social reciprocity, Tremor, Aggressive behavior, Ataxi... OMIM:619738
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst OMIM:615960
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal ataxia, Dysdiadochokinesis, Progr... ORPHA:352403
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Cerebellar atrophy OMIM:300894
Juvenile Huntington Disease
Depression, Chorea, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Dystonia, Progres... ORPHA:248111
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Cerebellar cortical atrophy, Dysphagia, Dysdiadoch... ORPHA:247234
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Ataxia, Truncal ataxia, Im... ORPHA:98772
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar cyst, Cereb... OMIM:613153
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so... ORPHA:444002
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Foxg1 Syndrome
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Paroxysmal bursts of laughter, ... ORPHA:561854
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambulation, Spasti... OMIM:611390
Landau-Kleffner Syndrome
Memory impairment, Depression, Gait ataxia, Emotional lability, Short attention span, Aggressive ... ORPHA:98818
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Trem... OMIM:615157
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Impaired distal vibration sensation... OMIM:605259
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Akinesia, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Ataxia, Un... OMIM:609270
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Bruxism, Inappropriate laught... ORPHA:3095
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Cerebellar atrophy, Dysmetria, Ataxia OMIM:619405
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia, Cerebellar atrophy ORPHA:139480
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Increased serum serotonin, Inf... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Ataxia-Oculomotor Apraxia 3
Distal sensory impairment, Cerebellar atrophy, Dysmetria, Ataxia OMIM:615217
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity OMIM:620445
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar vermis atrop... ORPHA:98760
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Gait disturbance, ... OMIM:277460
Intellectual Developmental Disorder, Autosomal Dominant 56
Short attention span, Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxi... OMIM:617854
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactivity, Motor ste... OMIM:618718
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocit... ORPHA:2828
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Agenesis of cerebellar vermis... OMIM:611134
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Aceruloplasminemia
Chorea, Limb ataxia, Gait ataxia, Akinesia, Abnormal dentate nucleus morphology, Ataxia ORPHA:48818
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Lingual dy... ORPHA:2388
Myoclonic-Astatic Epilepsy
Abnormal emotion, Reduced social reciprocity, Tremor, Attention deficit hyperactivity disorder, H... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, C... OMIM:617751
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Chorea, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysph... ORPHA:500180
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Chorea, Short attention spa... ORPHA:309271
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Decreased ser... ORPHA:163976
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Limb dystonia, Tremor, Hype... ORPHA:363400
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI OMIM:614815
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Intention tremor... ORPHA:309263
Corticobasal Syndrome
Akinesia, Gait disturbance, Somatic sensory dysfunction ORPHA:454887
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Fetal Akinesia Deformation Sequence
Akinesia, Dandy-Walker malformation ORPHA:994
Kufor-Rakeb Syndrome
Akinesia, Distal sensory impairment, Gait disturbance, Ataxia, Dysphagia OMIM:606693
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Increased circulating ACTH level, Disinhibition, Aggressive behavior... ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Chorea, Gait ataxia, Emotional lability, Dysmetria, Short attention span, I... OMIM:610217
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morp... ORPHA:8
Parkinson Disease 17
Akinesia OMIM:614203
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Abnormal eating behavior, Short attention span, Recurrent hand flapping, ... ORPHA:98794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, Dystonia, Athetosis,... OMIM:613454
Congenital Myopathy 9A
Akinesia OMIM:618822
Postencephalitic Parkinsonism
Vomiting, Paresthesia, Dysphagia, Akinesia ORPHA:97349
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Hydrocep... OMIM:613150
Graves Disease
Increased circulating free T3, Irritability, Polyphagia, Increased circulating free T4 concentrat... OMIM:275000
Lead Poisoning
Memory impairment, Depression, Somatic sensory dysfunction, Decreased circulating osteocalcin lev... ORPHA:330015
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social behavior ORPHA:309256
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Chorea, Limb dystonia, Lo... ORPHA:646
Pontocerebellar Hypoplasia, Type 8
Chorea, Gait ataxia, Dysphagia, Reduced social reciprocity OMIM:614961
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... OMIM:617600
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Neuromuscular dysphagia, Falls, Akinesia ORPHA:240071
48,Xxxy Syndrome
Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or... ORPHA:96263
Proximal 16P11.2 Microdeletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Dystonia, Motor stereotypy,... ORPHA:261197
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Intention tremor, Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cereb... ORPHA:314647
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Short attention span, Recurrent hand fl... OMIM:156200
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity, Ataxia OMIM:256600
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity OMIM:618798
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, D... ORPHA:356961
Wagro Syndrome
Low frustration tolerance, Emotional lability, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Emotional lability, Reduced social reciprocity, Spastic ataxia, Torticollis... ORPHA:300570
Alg11-Cdg
Opisthotonus, Reduced social reciprocity, Ataxia ORPHA:280071
Cerebral Creatine Deficiency Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Dyston... OMIM:300352
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Vomiting OMIM:619147
Dpagt1-Cdg
Inability to walk, Akinesia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Ataxia ORPHA:86309
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Emotional lability, Reduced social reciprocity, Aggressive behavior, H... OMIM:309520
Congenital Myopathy 12
Akinesia OMIM:612540
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling,... OMIM:620330
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Dysphagia, Akinesia, Chronic constipation ORPHA:411602
Fg Syndrome Type 1
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Blepharospasm, Depression, Obsessive-compulsive trait, Tremor,... OMIM:234200
Gaucher Disease, Perinatal Lethal
Akinesia, Dysphagia OMIM:608013
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Phelan-Mcdermid Syndrome
Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusti... OMIM:606232
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Monosomy 22Q13.3
Bruxism, Hyperactivity, Impaired pain sensation, Hair-pulling ORPHA:48652
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Emotional lability, Cognitive impairment, Torticollis, Ataxia, Tics, Motor stereotypy, Depression... OMIM:619475
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
African Trypanosomiasis
Diarrhea, Myelopathy, Somatic sensory dysfunction, Vomiting, Difficulty walking, Akinesia, Parest... ORPHA:3385
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Dysphagia, Akinesia OMIM:609454
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Reduced social reciprocity, Dysmetria, Aggressive behavior, Polyphagia, ... ORPHA:96121
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Congenital Disorder Of Deglycosylation 2
Dysphagia, Reduced social reciprocity OMIM:619775
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Dysphagia, Akinesia OMIM:601104
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology ORPHA:79139
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Mend Syndrome
Aggressive behavior, Abnormal social behavior, Hyperactivity ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Emotional lability, Red... ORPHA:293987
Helsmoortel-Van Der Aa Syndrome
Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Attention deficit hyperactivity di... OMIM:615873
Trichothiodystrophy
Gait ataxia, Intention tremor, Reduced social reciprocity ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363958
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353281
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele ORPHA:314621
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Gait ataxia, Reduced social reciprocity ORPHA:457359
Williams Syndrome
Depression, Overfriendliness, Dysmetria, Tremor, Attention deficit hyperactivity disorder, Ataxia... ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal
Oppositional defiant disorder, Self-mutilation, Reduced social reciprocity, Aggressive behavior, ... OMIM:607872
17Q11 Microdeletion Syndrome
Memory impairment, Short attention span, Reduced social reciprocity, Elevated circulating parathy... ORPHA:97685
Mowat-Wilson Syndrome
Impaired pain sensation, Bruxism, Reduced social reciprocity, Motor stereotypy, Ataxia, Dysphagia ORPHA:2152

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 En2

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 En2.

No publications found that use IMPC mice or data for En2.

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
En2tm414058(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
En2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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