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Gene: Efnb3 MGI:109196

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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:
ephrin B3
Synonyms:
LERK-8,  NLERK-2,  Elk-L3,  EFL-6,  ELF-3,  Epl8

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 Efnb3 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 Efnb3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia, X-Linked 4
Ataxia, Morphological abnormality of the pyramidal tract OMIM:301840
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Episodic ataxia ORPHA:1179
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Gait ataxia, Limb ataxia ORPHA:284282
Cataract-Ataxia-Deafness-Retardation Syndrome
Ataxia, Distal sensory impairment OMIM:212710
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Dystonia 9
Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Morphological abnormality of the pyramidal tract, Paresthesia, Gait ataxia, Dyse... ORPHA:356
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Lim... OMIM:605259
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Limb ataxia OMIM:615957
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia OMIM:617133
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Dysmetria, Degeneration of the lateral corticospinal tracts, Spinocerebellar ... OMIM:312920
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Huntington Disease-Like 3
Ataxia, Unsteady gait, Morphological abnormality of the pyramidal tract, Chorea OMIM:604802
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Morphological abnormality of the pyramidal tract OMIM:608627
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Impaired vibr... ORPHA:444099
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Dystonia 16
Gait disturbance, Morphological abnormality of the pyramidal tract OMIM:612067
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Spinal cord l... ORPHA:171612
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait, Impaired vibration sensation in t... OMIM:603563
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract OMIM:607225
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Morphological abnormal... OMIM:603516
Adult Krabbe Disease
Broad-based gait, Ataxia, Acroparesthesia, Morphological abnormality of the corticospinal tract, ... ORPHA:206448
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract OMIM:608768
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Dysmetria, Limb ataxia OMIM:617770
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortico... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Limb ataxia, Degeneration of the lateral corticospinal tracts, Limb dysmetria, Difficulty walking... ORPHA:100989
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Nystagmus, Hereditary Vertical
Ataxia, Abnormal vestibulo-ocular reflex OMIM:164150
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity OMIM:608029
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Somatic sensory dys... ORPHA:363710
Juvenile Primary Lateral Sclerosis
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology ORPHA:247604
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Athetosis, Dystonia, Abnormality of extrapyramidal motor function OMIM:615159
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Gait disturbance, Morphological abnormality of the pyramidal tract, Tip-toe gait ORPHA:83629
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait, Impaired vibration sensation in t... OMIM:600363
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia OMIM:618412
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion ORPHA:171863
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait, Impaired vibration sensation in t... OMIM:182600
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation OMIM:615515
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Giant Axonal Neuropathy 1, Autosomal Recessive
Morphological abnormality of the pyramidal tract, Distal sensory impairment, Steppage gait OMIM:256850
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxia ORPHA:101112
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Morphological abnormality of the pyramidal tract, Unsteady gait OMIM:256600
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity OMIM:617691
Spinocerebellar Ataxia 4
Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment OMIM:600223
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia OMIM:616267
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia OMIM:618317
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Oculomotor apraxia OMIM:615217
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, F... OMIM:616127
Autosomal Dominant Spastic Paraplegia Type 12
Limb ataxia, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortico... ORPHA:100993
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion ORPHA:171617
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic gait, Impaired vibration sensation in t... OMIM:182601
Parkinsonism-Dystonia 1, Infantile-Onset
Morphological abnormality of the pyramidal tract, Chorea OMIM:613135
Spinocerebellar Ataxia 26
Incoordination, Gait ataxia, Truncal ataxia, Limb ataxia OMIM:609306
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Degeneration of the latera... OMIM:604360
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Inability to walk, Morphological abnormality of the pyramidal tract, Chorea OMIM:607483
Spastic Paraplegia 7, Autosomal Recessive
Dysmetria, Impaired vibration sensation in the lower limbs, Dysdiadochokinesis, Degeneration of t... OMIM:607259
Dihydropyrimidinase Deficiency
Morphological abnormality of the pyramidal tract OMIM:222748
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia... OMIM:616204
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
L-2-Hydroxyglutaric Aciduria
Morphological abnormality of the pyramidal tract OMIM:236792
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Morphological abnormality of the pyramidal tract, Impaired vibratory sensation OMIM:238970
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia, Intention tremor, Dysdiadochokine... ORPHA:504476
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... ORPHA:98772
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Truncal ataxia, Limb ataxia OMIM:614229
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... ORPHA:275872
Narp Syndrome
Ataxia, Corticospinal tract atrophy, Progressive gait ataxia ORPHA:644
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Primary Lateral Sclerosis, Juvenile
Spastic gait, Abnormal upper motor neuron morphology OMIM:606353
Bile Acid Synthesis Defect, Congenital, 6
Ataxia, Slurred speech, Dysmetria OMIM:617308
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Impaired vibratory sensation, Morphological abnormality of the pyramidal tract, Distal se... OMIM:302900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Paucity of anterior horn motor neurons, Abnormal anterior ... OMIM:611890
Aicardi-Goutieres Syndrome 1
Inability to walk, Morphological abnormality of the pyramidal tract OMIM:225750
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Abnormality of the spinocerebellar tracts, A... OMIM:601992
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Friedreich Ataxia And Congenital Glaucoma
Abnormality of the dorsal column of the spinal cord, Abnormality of the spinocerebellar tracts, A... OMIM:229310
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait ORPHA:2590
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Abnormal upper motor neur... ORPHA:35689
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Abnormal upper motor neuron morphology OMIM:215470
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Morphological abnormality of the pyramidal tract OMIM:612199
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Corticospinal tract hypoplasia, Agenesis of corpus callosum ORPHA:255138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking OMIM:613954
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Waddling gait ORPHA:52430
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Abnormal upper motor neuron morphology OMIM:221770
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Abnormal lower motor neuron morphology, Diff... OMIM:205100
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of t... ORPHA:139399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Smith-Magenis Syndrome
Gait disturbance, Impaired pain sensation, Corticospinal tract hypoplasia ORPHA:819
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Abnormal lower motor neuron m... ORPHA:276244
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Abnormal upper motor neuron morphology OMIM:601162
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agenesis of corpus callosum, Hypoplasia of the pyramidal tract OMIM:253800
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Loss of ambulation, Gait disturbance OMIM:614298
Japanese Encephalitis
Choreoathetosis, Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn mot... ORPHA:79139
Williams Syndrome
Gait imbalance, Ataxia, Dysmetria, Atrophy/Degeneration involving the corticospinal tracts, Spina... ORPHA:904

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 Efnb3

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 Efnb3.

No publications found that use IMPC mice or data for Efnb3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Efnb3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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