Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GA repeat binding protein, beta 1
Synonyms:
E4TF1-53,  E4TF1-47,  NRF2B2,  NRF2B1,  E4Tf1B,  BABPB2,  E4TF1,  GABPB1-2,  GABPB1-1

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 Gabpb1 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 Gabpb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Mental Retardation With Spastic Paraplegia
Spastic paraplegia, Slowly progressive spastic quadriparesis OMIM:309640
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Spastic Paraplegia 34, X-Linked
Spastic paraplegia, Spastic gait, Babinski sign, Clonus, Paraplegia OMIM:300750
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Spastic Paresis, Glaucoma, And Mental Retardation
Spastic paraplegia OMIM:270850
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Paraplegia, Spasticity ORPHA:2818
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Spasticity OMIM:607584
Infantile-Onset Ascending Hereditary Spastic Paralysis
Spastic paraplegia, Abnormal pyramidal sign, Spastic tetraplegia, Tetraplegia, Spasticity ORPHA:293168
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign OMIM:617046
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Spastic paraparesis, Babinski sign OMIM:613672
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Babinski sign OMIM:248900
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Autosomal Recessive Spastic Paraplegia Type 43
Spastic paraparesis, Poor fine motor coordination, Spastic gait, Babinski sign, Spasticity ORPHA:320370
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Spastic paraparesis, Ataxia ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor OMIM:616053
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Dysmetria, Intention tremor ORPHA:423275
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Spastic paraplegia OMIM:250500
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Tetraparesis, Parkinsonism, Extrapyramidal dyskinesia OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Weakness due to... ORPHA:275872
Mental Retardation, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Ataxia ORPHA:99014
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Upper mot... ORPHA:506353
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Spastic paraplegia OMIM:246555
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Lower limb spasticity, Spastic gait, Dysmetria, Babinski... OMIM:312920
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Spastic Paraplegia With Precocious Puberty
Spastic paraplegia OMIM:182820
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Spastic gait, Babinski sign, Progressive spastic paraparesis, Progressive ... ORPHA:444099
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Dysmetria, Babinski sign, Frequent falls OMIM:302800
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Parkinsonism ORPHA:140989
Primary Lateral Sclerosis
Weakness due to upper motor neuron dysfunction, Spastic gait, Babinski sign, Upper motor neuron d... ORPHA:35689
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal myoclonus, Truncal ataxia, Spastic paraparesis OMIM:113610
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia, Parkinso... OMIM:300894
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Choreoathetosis, Tetraparesis, Ataxia ORPHA:27
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Knee clonus, Ankle clonus, Spasti... OMIM:275900
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Limb ataxia, Slurred speech, Paraparesis OMIM:300100
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Spastic tetraparesis, Ankle clonus, Ataxia, Lower limb s... OMIM:612319
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Hemiparesis, Paralysis, Progressive spastic paraparesis ORPHA:43
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Rigidity, Spastic paraparesis, Bradykinesia OMIM:615643
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Myoclonus, D... OMIM:614487
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Ataxia, Bradykinesia, D... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Leukodystrophy, Hypomyelinating, 2
Choreoathetosis, Spastic paraparesis, Head titubation, Ataxia, Babinski sign, Intention tremor, P... OMIM:608804
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Oculomotor apraxia, Ataxia, Myoclonus, Dysmetria, Spasti... ORPHA:313772
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Spastic dysarthria, Spastic paraparesis, Dysmetria OMIM:616680
Peroxisome Biogenesis Disorder 8B
Dysmetria, Spastic paraparesis, Ataxia, Spasticity OMIM:614877
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis ORPHA:397725
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spastic paraparesis, Hand tremor, Bradykinesia, Parkinsonism, Babinski sign, Frequent falls, Rigi... ORPHA:289560
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Spastic paraparesis ORPHA:101077
Hypermanganesemia With Dystonia 1
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Paraplegia, Spasticity ORPHA:1136
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Slurred speech, Spastic diplegia, Ataxia, Lo... ORPHA:206443
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Spastic paraparesis OMIM:618721
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of extrapyramidal motor function, Paraparesis, Ataxia, Parkinsonism, Progressive spas... ORPHA:2822
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Tetraparesis, Ataxia, Babinski sign, Upper motor neuron dy... ORPHA:206448
Poliomyelitis
Fasciculations, Paraparesis, Hyperkinetic movements, Paralysis ORPHA:2912
Gaucher Disease, Type Iii
Myoclonus, Spastic paraparesis, Ataxia OMIM:231000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, Paraparesis, Limb hypertonia, Lower limb spasticity, Sp... ORPHA:98889
Farber Disease
Paraparesis, Myoclonus, Spasticity ORPHA:333
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Cerebrotendinous Xanthomatosis
Spastic paraparesis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Paraparesis... ORPHA:909
Oculodentodigital Dysplasia
Paraparesis, Tetraparesis, Ataxia, Spasticity OMIM:164200
Isolated Succinate-Coq Reductase Deficiency
Spastic paraparesis, Spastic tetraparesis, Lower limb hypertonia, Ataxia, Babinski sign, Frequent... ORPHA:3208
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraparesis, Poor coordination, Abnormal pyramidal sign, Clonus, Spasticity OMIM:238970
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Cerebral palsy, Spasticity ORPHA:760
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Hand apraxia, Spastic paraparesis, Babinski sign ORPHA:280229
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Hand tremor, Spastic paraparesis, Babinski sign ORPHA:101076
Multiple Carboxylase Deficiency
Spastic paraparesis, Ataxia ORPHA:148
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hand tremor, Spastic paraparesis, Dysmetria ORPHA:3041
Autosomal Recessive Spastic Paraplegia Type 55
Spastic paraparesis, Poor fine motor coordination, Lower limb spasticity, Babinski sign, Spasticity ORPHA:320375
Igg4-Related Pachymeningitis
Paraparesis ORPHA:449427
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Progressive spastic quadri... ORPHA:329308
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Babinski sign OMIM:500013
Autosomal Recessive Spastic Paraplegia Type 20
Spastic paraparesis, Speech apraxia, Slurred speech, Ankle clonus, Spastic gait, Babinski sign, S... ORPHA:101000
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Ataxia ORPHA:369891
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis ORPHA:391408
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Spastic paraparesis, Ataxia ORPHA:254930
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Hemiparesis, Ataxia, Lower limb spasticity, Upper motor neuron dysfunction ORPHA:395
Argininemia
Progressive spastic quadriplegia, Spastic gait, Frequent falls, Spastic paraparesis OMIM:207800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Truncal ataxia, Spastic paraparesis, Hypertonia, Poor fine motor coordination... ORPHA:309854
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Hypertonia, Babinski sign ORPHA:35125
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic tetraplegia, Spastic paraparesis, Ataxia OMIM:609136
Aicardi-Goutières Syndrome
Tremor, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnormality of extrapyramidal moto... ORPHA:51
Adrenomyeloneuropathy
Progressive spastic paraparesis, Spastic gait, Babinski sign, Spasticity ORPHA:139399
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Oculodentodigital Dysplasia
Spastic paraparesis, Ataxia, Spasticity ORPHA:2710
Hurler Syndrome
Abnormal pyramidal sign, Cerebral palsy, Spastic paraparesis ORPHA:93473
Biotinidase Deficiency
Spastic paraparesis, Ataxia ORPHA:79241
Split Cord Malformation
Paraparesis ORPHA:573278
Say-Barber-Miller Syndrome
Babinski sign, Lower limb hypertonia, Spastic paraparesis, Ankle clonus ORPHA:3132
Microphthalmia, Syndromic 2
Spastic paraparesis OMIM:300166

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 Gabpb1

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 Gabpb1.

No publications found that use IMPC mice or data for Gabpb1.

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MGI Allele Allele Type Produced
Gabpb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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