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Gene: En2 MGI:95390

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia, Cerebellar vermis atrophy ORPHA:211017
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Cerebellar ataxia associated with quadrupedal gait, Inability to walk, Trunca... OMIM:615268
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 37
Dysphagia, Cerebellar atrophy, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Autosomal Recessive Spastic Paraplegia Type 32
Cerebellar cortical atrophy, Abnormal pons morphology, Impaired vibration sensation in the lower ... ORPHA:171622
Spinocerebellar Ataxia Type 38
Gait ataxia, Cerebellar atrophy, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy ORPHA:217012
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Autosomal Spastic Paraplegia Type 30
Distal sensory impairment, Somatic sensory dysfunction, Unsteady gait, Ataxia, Scissor gait, Spas... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Impaired distal vibration sensation, Chiari type I malformation, Impaired distal proprioc... OMIM:619742
Dystonia With Cerebellar Atrophy
Dysphagia, Cerebellar atrophy, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Cerebellar atrophy, Trun... OMIM:604432
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Cerebellar atrophy, Unsteady gait, Ataxia OMIM:615705
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Cerebellar atrophy, Dysmetria OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Dysphagia, Cerebellar atrophy, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Cerebellar atrophy, Tru... ORPHA:98764
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Cerebellar atrophy, Ataxia ORPHA:98769
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Cerebellar atrophy, Ataxia OMIM:600143
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus OMIM:604213
Spinocerebellar Ataxia 35
Difficulty walking, Ataxia, Pseudobulbar paralysis, Loss of ambulation, Impaired proprioception, ... OMIM:613908
Spinocerebellar Ataxia 46
Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar atrophy, Dysmetria OMIM:617770
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia, Autosomal Recessive 22
Unsteady gait, Ataxia, Cerebellar atrophy, Truncal ataxia, Dysmetria OMIM:616948
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Progressive cerebellar ataxia, Difficulty walking, Progressive gait ataxia, Cerebellar vermis atr... ORPHA:284332
Lichtenstein-Knorr Syndrome
Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrop... OMIM:616291
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia ORPHA:98773
Spinocerebellar Ataxia Type 37
Gait disturbance, Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Cerebellar vermis atrop... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Gait disturbance, Ataxia, Dysphagia, Cerebellar vermis atrophy, Cerebellar atrophy, ... OMIM:614229
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia OMIM:618876
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Impaired ability to form peer relationships, Impaired social interacti... OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Unsteady gait, Impaired distal vibration sensation, Dysdiadochokinesis, Dysphagia, G... OMIM:617633
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:614322
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired distal propri... OMIM:610245
Spinocerebellar Ataxia 4
Distal sensory impairment, Limb dysmetria, Cerebellar atrophy, Progressive cerebellar ataxia OMIM:600223
Spinocerebellar Ataxia Type 40
Unsteady gait, Pontocerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Broad-based gait, Dysmetria ORPHA:423275
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysphagia, Gait ataxia, Ce... OMIM:605361
Spinocerebellar Ataxia, X-Linked 1
Dysphagia, Cerebellar atrophy, Unsteady gait, Ataxia OMIM:302500
Spinocerebellar Ataxia 18
Cerebellar atrophy, Progressive gait ataxia, Dysmetria, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 14
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Unsteady gait, Cerebellar hypoplasia, Cerebellar atrophy, Truncal ataxia OMIM:615768
Spinocerebellar Ataxia Type 35
Limb ataxia, Progressive cerebellar ataxia, Difficulty walking, Pseudobulbar paralysis, Gait atax... ORPHA:276193
Hereditary Geniospasm
Intention tremor, Abnormal social behavior ORPHA:53372
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Cerebellar atrophy, Ataxia, Dysmetria OMIM:608029
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Cerebellar atrophy, Choreoathetosis, Truncal ataxia OMIM:616230
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia of the b... ORPHA:101070
Spinocerebellar Ataxia 26
Gait ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia 44
Ataxia, Dysdiadochokinesis, Dysphagia, Gait ataxia, Cerebellar atrophy, Dysmetria OMIM:617691
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:620174
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Cerebellar atrophy, Ataxia, Dysmetria OMIM:610357
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Loss of ambulation, Dysphagia, Positive Romberg sign, Cerebellar atrophy, Choreoathetosis... OMIM:618088
Spinocerebellar Ataxia 49
Unsteady gait, Ataxia, Loss of ambulation, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria OMIM:619806
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Dementia, Frontal lobe dementia, Front... OMIM:600274
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal sensory impairment, Ataxia, Steppage gait, Impaired vibratory sensation, Impaired distal p... OMIM:607250
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:616531
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... OMIM:172700
Gordon Holmes Syndrome
Cerebellar atrophy, Ataxia, Chorea OMIM:212840
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cerebellar cyst, Hypoplasia of the b... OMIM:615181
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Dysphagia, Gait ataxia, Cerebellar atrophy, Truncal a... OMIM:607346
Spinocerebellar Ataxia 29
Diffuse cerebellar atrophy, Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, ... OMIM:117360
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Difficulty walking, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Broad-based gait ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Unsteady gait, Ataxia, Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Cerebel... OMIM:616127
Spinocerebellar Ataxia Type 26
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... ORPHA:101112
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Abnormal brainstem ... ORPHA:370022
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Gait ataxia, Akinesia, Cerebellar atrophy OMIM:607454
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Difficulty walking, Progressive gait ataxia, Impaired... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Truncal a... OMIM:616204
Spinocerebellar Ataxia Type 29
Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Dysmetria ORPHA:208513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebell... OMIM:613155
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Impaired social interactions, Kinetic tremor, Torticollis OMIM:611092
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sensation at ankles, Unsteady... OMIM:616795
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Gait ataxia, Inability to walk, Ataxia OMIM:617915
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Mitochondrial Complex I Deficiency, Nuclear Type 28
Gastroesophageal reflux, Akinesia, Cerebellar atrophy, Choreoathetosis, Truncal ataxia OMIM:618249
Hartnup Disorder
Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Gait ataxia, Delayed social development, Dysmetria OMIM:618090
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Hsd10 Disease
Ataxia, Abnormal social behavior, Dysphagia, Tremor, Choreoathetosis ORPHA:391417
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Spinocerebellar Ataxia 15
Gait ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:606658
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Gait disturbance, Ataxia OMIM:612020
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Cerebellar vermis... OMIM:609583
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Progressive gait ataxia, Dysdiadochokinesis, Cerebellar atrophy, T... ORPHA:352403
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Inappropriate laughter, Chorea, Aggressive behavior, Dystonia OMIM:619150
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Limb ataxia, Difficulty walking, Ataxia, Broad-based gait... ORPHA:98772
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inappropriate laughter, Tremor, Aggressive behavior OMIM:616269
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Ataxia, Agitation, Disinhibition, Dementia, Abnormal social behavior, Memory i... ORPHA:1020
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Cerebellar cortical atrophy, Dysdiadochokinesis, Dysphagia, Gait ataxia, Akinesia, Shuffl... ORPHA:247234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cereb... OMIM:613153
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morpho... ORPHA:280195
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Cerebellar atrophy OMIM:300894
Spastic Ataxia 3, Autosomal Recessive
Ataxia, Loss of ambulation, Spastic ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar at... OMIM:611390
Juvenile Huntington Disease
Hyperactivity, Progressive cerebellar ataxia, Ataxia, Dementia, Irritability, Chorea, Gait ataxia... ORPHA:248111
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Intention tremor, Attention deficit hyperactivity disorder, Impaired social interactions, Ataxia ORPHA:137831
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Motor deterioration, Anxiety, Pro... ORPHA:168782
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Chorea, Self-injurious behavior, Aggressive behavior, Dystonia ORPHA:382
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Gait ataxia, Lim... OMIM:605259
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Poorly formed metencephalon, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Suicidal ideation, Restlessness, Shyness, Abnormal emotion/affect... ORPHA:96369
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Unsteady gait, Ataxia, Dysphagia, Gait ataxia, Impaired vibratory sensation, Cerebel... OMIM:609270
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:617127
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Ataxia, Anxiety, Chorea, Dysphagia, Tremor, Action tremor, Aggressi... OMIM:619738
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Cerebellar hypoplasia, Akinesia, Dandy-Walker malformation OMIM:225790
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Hyperinsulinemia, Aggressive behavior, No social intera... ORPHA:329249
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia, Cerebellar atrophy ORPHA:139480
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Memory impa... ORPHA:98818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor ORPHA:411515
Ataxia-Oculomotor Apraxia 3
Distal sensory impairment, Cerebellar atrophy, Ataxia, Dysmetria OMIM:615217
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Leg dystonia, Anxiety, Oculogyric crisis, Generalized dystonia, ... ORPHA:255
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Impaired social interactions, Ataxia, Cognitive impairment, Anxiety, Dysdiadochokine... OMIM:615157
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis atrophy, Cerebellar at... OMIM:614575
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... ORPHA:240094
Coach Syndrome 2
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:619111
Spinocerebellar Ataxia Type 8
Limb ataxia, Unsteady gait, Ataxia, Hypoplasia of the pons, Dysphagia, Gait ataxia, Impaired vibr... ORPHA:98760
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Aggressive behavior, Choreoathetosis, Dystonia OMIM:612716
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Pr... OMIM:610042
Ataxia With Vitamin E Deficiency
Gait disturbance, Progressive cerebellar ataxia, Ataxia, Impaired proprioception, Dysdiadochokine... OMIM:277460
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia ORPHA:530983
Atypical Juvenile Parkinsonism
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait ORPHA:391411
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Hyperactivity, Chorea, Dysphagia, Gait ataxia, Aggressive behavior, Dyst... ORPHA:500180
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Hypoplasia of the... OMIM:610688
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Progressive cerebellar ataxia, Dense calcifications in the cerebellar dentate n... ORPHA:99
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior OMIM:618718
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus OMIM:614120
Aceruloplasminemia
Limb ataxia, Ataxia, Chorea, Gait ataxia, Abnormal dentate nucleus morphology, Akinesia ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebella... OMIM:617751
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hyperactivity, Ataxia, Cognitive impairment, Hyperinsulinemia, Tremor, Gait ataxia... ORPHA:363400
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Arrhinencephaly OMIM:614815
Cln5 Disease
Hyperactivity, Ataxia, Anxiety, Dysdiadochokinesis, Tremor, Mental deterioration, Aggressive beha... ORPHA:228360
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior ORPHA:228402
Corticobasal Syndrome
Akinesia, Gait disturbance, Somatic sensory dysfunction ORPHA:454887
Spastic Paraplegia 47, Autosomal Recessive
Dystonia, Shyness OMIM:614066
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj... OMIM:619827
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Somatic sensory dysfunction, Hyperactivity, Disinhibition, Cogn... ORPHA:43
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Dementia, Progressive gait ataxia, Abnormal social behavior, Chorea, Memory i... ORPHA:309271
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Agitation, Cognitive impairment, Anxiety, Dementia, Frontal... ORPHA:2828
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Intention tremor, Progress... ORPHA:309263
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Happy demeanor, Hyperactivity, Ataxia OMIM:614104
Fetal Akinesia Deformation Sequence
Akinesia, Dandy-Walker malformation ORPHA:994
Myoclonic-Astatic Epilepsy
Impaired social interactions, Hyperactivity, Ataxia, Abnormal emotion/affect behavior, Attention ... ORPHA:1942
Kufor-Rakeb Syndrome
Distal sensory impairment, Gait disturbance, Ataxia, Dysphagia, Akinesia OMIM:606693
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Abnormal aggressive, impulsi... ORPHA:3077
Tonne-Kalscheuer Syndrome
Shyness, Anxiety, Dysphagia, Self-injurious behavior, Tremor, Aggressive behavior OMIM:300978
Parkinson Disease 17
Akinesia OMIM:614203
47,Xyy Syndrome
Abnormal brainstem morphology, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hydroce... ORPHA:8
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Adenylosuccinase Deficiency
Self-mutilation, Hyperactivity, Inappropriate laughter, Gait ataxia, Opisthotonus, Happy demeanor... OMIM:103050
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Chorea, Dysdiadochokinesis, Gait ataxia, Dysphagia, Mental det... OMIM:610217
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Manganese Poisoning
Emotional lability, Postural tremor, Inappropriate laughter, Memory impairment, Irritability, Agg... ORPHA:306682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cerebellar dysplasia, Hydrocephalus, Cerebellar cyst, Partial absence of cerebella... OMIM:613150
Congenital Myopathy 9A
Akinesia OMIM:618822
Infantile Neuroaxonal Dystrophy
Emotional lability, Hyperactivity, Ataxia, Psychomotor deterioration, Mental deterioration, Choki... ORPHA:35069
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Gait ataxia, Dystonia ORPHA:309256
Postencephalitic Parkinsonism
Akinesia, Paresthesia, Dysphagia, Vomiting ORPHA:97349
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:206448
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration,... ORPHA:163681
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Tremor, Happy... ORPHA:98794
Niemann-Pick Disease Type C
Limb dystonia, Apathy, Ataxia, Axial dystonia, Disinhibition, Cognitive impairment, Progressive n... ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Molar tooth sign on M... OMIM:619306
X-Linked Intellectual Disability, Cilliers Type
Increased circulating gonadotropin level, Shyness, Decreased serum testosterone concentration ORPHA:163971
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Hydrocephalus, Kinked brainstem, Hypoplasia of the brainstem, Cerebellar hy... OMIM:617822
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Nonprogressive cerebellar ataxia, Ataxia, Abnormal social behavior, Memory impairment, Positive R... ORPHA:314647
Choreoacanthocytosis
Mental deterioration, Laryngeal dystonia, Bradyphrenia, Head-banging, Emotional lability, Limb dy... ORPHA:2388
48,Xxxy Syndrome
Anxiety, Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Tremor... ORPHA:96263
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Irritability, Increased circulating free T3, Increased circulating fre... OMIM:275000
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Athetosis, Chorea, Dystonia ORPHA:52503
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls, Neuromuscular dysphagia ORPHA:240071
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Angelman Syndrome
Hyperactivity, Ataxia, Limb tremor, Paroxysmal bursts of laughter, Progressive gait ataxia, Happy... OMIM:105830
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Hair-pulling, Aggressive behavior, Ataxia OMIM:616393
Slc35A2-Cdg
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Abno... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Dominant 45
Anxiety, Attention deficit hyperactivity disorder, Hyperactivity, Chorea OMIM:617600
Trichotillomania
Hair-pulling OMIM:613229
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Perry Syndrome
Akinesia, Short stepped shuffling gait OMIM:168605
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Luscan-Lumish Syndrome
Polyphagia, Anxiety, Aggressive behavior, Shyness OMIM:616831
Spastic Paraplegia 52, Autosomal Recessive
Shyness OMIM:614067
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Vomiting OMIM:619147
Congenital Myopathy 12
Akinesia OMIM:612540
Dpagt1-Cdg
Inability to walk, Ataxia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Akinesia ORPHA:86309
49,Xxxxy Syndrome
Overfriendliness, Shyness, Attention deficit hyperactivity disorder, Irritability, Tremor, Low fr... ORPHA:96264
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Hereditary Late-Onset Parkinson Disease
Akinesia, Chronic constipation, Dysphagia, Shuffling gait ORPHA:411602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cerebellar dysplasia, Hydrocephalus, Occipital encephalocele, Kinked brainstem, Meningoencephaloc... OMIM:236670
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Aggressive behavior, Hyperactivity, Decreased ... ORPHA:85327
Gaucher Disease, Perinatal Lethal
Akinesia, Dysphagia OMIM:608013
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Occipital encephalocele, A... OMIM:610188
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Hair-pulling, Hyperactivity, Irritability ORPHA:447997
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Hypoplasia of the brainstem, Molar tooth sign ... OMIM:616546
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cereb... ORPHA:444072
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Anxiety, Attention deficit hyperactivity disorder, Ab... ORPHA:177907
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior ORPHA:293948
African Trypanosomiasis
Paresthesia, Gait disturbance, Somatic sensory dysfunction, Difficulty walking, Vomiting, Impaire... ORPHA:3385
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal cerebellum morphology... ORPHA:68
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Dysphagia, Falls OMIM:609454
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Ataxia, Dysphagia, Akinesia, Choreoathetosis OMIM:234200
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Hyperactivity ORPHA:48652
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Spastic Paraplegia 51, Autosomal Recessive
Shyness OMIM:613744
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Tuberous Sclerosis Complex
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Self-... ORPHA:805
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Dysphagia, Falls OMIM:601104
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:79139
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Trichothiodystrophy
Intention tremor, Gait ataxia, Reduced social reciprocity ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Anxiety, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Anxiety, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Shyness, Impulsivity OMIM:301030
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology ORPHA:314621
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Shyness, Ataxia, Pseudobulbar paralysis, Anxiety, Intention tremor, Aggressive behavior ORPHA:466791
Williams Syndrome
Overfriendliness, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Abnormal social beha... ORPHA:904
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987

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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