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,  EFL-6,  Elk-L3,  ELF-3,  Epl8

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 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
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Dystonia 9
Choreoathetosis, Abnormal pyramidal tract morphology, Episodic ataxia, Paresthesia OMIM:601042
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Acroparesthesia, Paresthesia ORPHA:356
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Abnormal pyramid... OMIM:605259
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Inability to walk OMIM:615268
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 31
Limb ataxia, Ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Huntington Disease-Like 3
Unsteady gait, Chorea, Ataxia, Abnormal pyramidal tract morphology OMIM:604802
Spastic Paraplegia 2, X-Linked
Spastic gait, Loss of ambulation, Spinocerebellar tract degeneration, Degeneration of the lateral... OMIM:312920
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk OMIM:619333
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis, Abnormal pyramidal tract morphology OMIM:608627
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Degeneration of the lateral corticospinal tracts, Spinal cord lesion ORPHA:320355
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Impaired vibration sensation in the lower limbs, Difficulty walking, Degeneration o... ORPHA:444099
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Autosomal Dominant Spastic Paraplegia Type 37
Spastic gait, Difficulty walking, Degeneration of the lateral corticospinal tracts, Spinal cord l... ORPHA:171612
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia 10
Limb ataxia, Distal sensory impairment, Progressive cerebellar ataxia, Dysdiadochokinesis, Abnorm... OMIM:603516
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia, Unsteady gait, Abnormal ... ORPHA:95434
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal tract morphology OMIM:608768
Dystonia 16
Abnormal pyramidal tract morphology, Gait disturbance OMIM:612067
Adult Krabbe Disease
Impaired tactile sensation, Broad-based gait, Abnormal pyramidal tract morphology, Gait disturban... ORPHA:206448
Autosomal Dominant Spastic Paraplegia Type 8
Spastic gait, Limb ataxia, Difficulty walking, Spinal cord lesion, Limb dysmetria, Degeneration o... ORPHA:100989
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Spastic gait, Impaired proprioception, Difficulty walking, Impaired vibration sensat... ORPHA:100999
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Abnormal pyramidal tract morphology, Gait disturbance ORPHA:83629
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Autosomal Dominant Spastic Paraplegia Type 42
Spastic gait, Degeneration of the lateral corticospinal tracts, Spinal cord lesion ORPHA:171863
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spastic Paraplegia 8, Autosomal Dominant
Spastic gait, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortic... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortic... OMIM:600363
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Spastic Paraplegia 3, Autosomal Dominant
Spastic gait, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortic... OMIM:182600
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
L-2-Hydroxyglutaric Aciduria
Ataxia, Abnormal pyramidal tract morphology OMIM:236792
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Dysmetria, Myoclonus OMIM:619191
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia ORPHA:101112
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Ataxia, Abnormal pyramidal tract morphology OMIM:256600
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria OMIM:600223
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Distal sensory impairment, Abnormal pyramidal tract morphology OMIM:256850
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Impaired vibration sensation in the lower limbs, Impaired distal vibr... OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 38
Spastic gait, Degeneration of the lateral corticospinal tracts, Spinal cord lesion ORPHA:171617
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Autosomal Dominant Spastic Paraplegia Type 12
Limb ataxia, Spastic gait, Impaired proprioception, Difficulty walking, Impaired vibration sensat... ORPHA:100993
Spastic Paraplegia 7, Autosomal Recessive
Spastic gait, Dysdiadochokinesis, Impaired vibration sensation in the lower limbs, Waddling gait,... OMIM:607259
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Impaired tandem gait, Ataxia, Gait ataxia OMIM:605021
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking OMIM:611067
Spastic Paraplegia 4, Autosomal Dominant
Spastic gait, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortic... OMIM:182601
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal tract morphology OMIM:613135
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Basal Ganglia Disease, Biotin-Thiamine Responsive
Chorea, Abnormal pyramidal tract morphology, Inability to walk, Gait ataxia OMIM:607483
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Narp Syndrome
Ataxia, Corticospinal tract atrophy, Progressive gait ataxia ORPHA:644
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Progressive cereb... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spastic gait, Loss of ambulation OMIM:606353
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Ataxia, Gait disturbance OMIM:614229
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Dege... OMIM:602433
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Aicardi-Goutieres Syndrome 1
Abnormal pyramidal tract morphology, Inability to walk OMIM:225750
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Difficulty walking, Inability to walk, Abnormal anterior ... OMIM:611890
Dihydropyrimidinase Deficiency
Abnormal pyramidal tract morphology OMIM:222748
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking ORPHA:2590
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Gait disturbance OMIM:263570
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Atrophy of the spinal cord, Cervical spinal... ORPHA:35689
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia OMIM:215470
Hydrocephalus, Congenital, X-Linked
Agenesis of corpus callosum, Corticospinal tract hypoplasia OMIM:307000
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Abnormal pyramidal tract morphology OMIM:612199
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Agenesis of corpus callosum, Corticospinal tract hypoplasia ORPHA:255138
Friedreich Ataxia 2
Ataxia, Abnormal pyramidal tract morphology, Abnormality of the spinocerebellar tracts, Abnormali... OMIM:601992
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
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Waddling gait ORPHA:52430
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gait disturbance OMIM:221770
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Tip-toe gait, Difficulty walking, Abnormal upper motor neuron morphology, Ataxia, A... OMIM:205100
Adrenomyeloneuropathy
Spastic gait, Dorsal column degeneration, Atrophy of the spinal cord, Atrophy/Degeneration involv... ORPHA:139399
Smith-Magenis Syndrome
Impaired pain sensation, Gait disturbance, Corticospinal tract hypoplasia ORPHA:819
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Spastic gait, Gait disturbance, Gait ataxia OMIM:601162
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Neurogenic bladder, Progressive gait ataxia, Degeneration of anter... ORPHA:276244
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agenesis of corpus callosum, Hypoplasia of the pyramidal tract OMIM:253800
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Neurodegeneration With Brain Iron Accumulation 4
Loss of ambulation, Abnormal lower motor neuron morphology, Ataxia, Gait disturbance OMIM:614298
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Japanese Encephalitis
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Chore... ORPHA:79139
Williams Syndrome
Gait imbalance, Spina bifida occulta, Atrophy/Degeneration involving the corticospinal tracts, Ga... 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.

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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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