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Gene: Gabpb1 MGI:95611

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

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 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
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Spastic Paraplegia 34, X-Linked
Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait OMIM:300750
Spastic Paresis, Glaucoma, And Mental Retardation
Spastic paraplegia OMIM:270850
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus OMIM:607584
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Spasticity, Paraplegia ORPHA:2818
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Poor fine motor coordination, Spastic paraparesis, Spasticity, Spastic gait ORPHA:320370
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Spinocerebellar Ataxia Type 40
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor ORPHA:423275
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Spastic paraplegia OMIM:250500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia ORPHA:99014
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... OMIM:248900
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Spastic paraplegia OMIM:246555
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... OMIM:613647
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Frequent falls OMIM:302800
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Spastic gait, Progressive ... ORPHA:444099
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia OMIM:300100
Primary Lateral Sclerosis
Weakness due to upper motor neuron dysfunction, Progressive spastic paraparesis, Babinski sign, S... ORPHA:35689
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Abnormal pyramidal sign, Dysmetria, Spastic dysarthria, Spastic paraparesis, Spast... OMIM:616680
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculomotor... OMIM:614487
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia... OMIM:238970
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria, Gait atax... OMIM:614877
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculom... ORPHA:313772
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis ORPHA:391417
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
Leukodystrophy, Hypomyelinating, 2
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... OMIM:608804
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Spastic paraparesis ORPHA:101077
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... ORPHA:289560
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Upper limb spa... OMIM:275900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis ORPHA:397725
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Spastic paraparesis OMIM:618721
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Paraparesis, Abnormality of extrapyramidal motor function, Progressive spas... ORPHA:2822
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia ORPHA:79124
Poliomyelitis
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis ORPHA:2912
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... ORPHA:98889
Farber Disease
Paraparesis, Spasticity, Myoclonus ORPHA:333
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Prune1-Related Neurological Syndrome
Spastic tetraparesis, Clonus, Tongue fasciculations, Spastic paraparesis ORPHA:544469
Arachnoid Cyst
Hemiparesis, Paraparesis, Slurred speech, Tetraparesis ORPHA:2356
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Spastic paraparesis, Spastici... ORPHA:3208
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Cerebrotendinous Xanthomatosis
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti... ORPHA:909
Adult Krabbe Disease
Ataxia, Progressive spastic paraparesis, Babinski sign, Hoffmann sign, Clumsiness, Tetraparesis, ... ORPHA:206448
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Truncal ataxia, Sp... OMIM:105210
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis OMIM:270200
Oculodentodigital Dysplasia
Paraparesis, Spasticity, Ataxia, Tetraparesis OMIM:164200
Acute Transverse Myelitis
Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, Spasticity,... ORPHA:139417
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity ORPHA:760
Pelizaeus-Merzbacher Disease In Female Carriers
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis ORPHA:280229
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Babinski sign, Hand tremor, Spastic paraparesis ORPHA:101076
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... ORPHA:329308
Igg4-Related Pachymeningitis
Paraparesis ORPHA:449427
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Babinski sign, Poor fine motor coordination, Spastic paraparesis, Spasticity ORPHA:320375
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Spastic paraparesis OMIM:500013
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Dysmetria, Hand tremor ORPHA:3041
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, Ankle clonus, Spastic parapare... ORPHA:101000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis ORPHA:391408
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Ataxia, Spastic paraparesis ORPHA:254930
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Hemiparesis, Spastic paraparesis, Upper motor neuron dysfunction ORPHA:395
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Eales Disease
Spastic paraparesis ORPHA:40923
Split Cord Malformation
Paraparesis ORPHA:573278
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Myoclonus, Spastic paraparesis, Spasticity OMIM:609136
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti... ORPHA:51
Foix-Alajouanine Syndrome
Progressive spastic paraparesis, Frequent falls ORPHA:79093
Adrenomyeloneuropathy
Progressive spastic paraparesis, Babinski sign, Spastic gait, Spasticity ORPHA:139399
Oculodentodigital Dysplasia
Spasticity, Ataxia, Spastic paraparesis ORPHA:2710
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Biotinidase Deficiency
Ataxia, Spastic paraparesis ORPHA:79241
Say-Barber-Miller Syndrome
Ankle clonus, Lower limb hypertonia, Babinski sign, Spastic paraparesis 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
Gabpb1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gabpb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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