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Gene: Sbf2 MGI:1921831

Registered for phenotyping at IMPC

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

Gene Summary

Name:

SET binding factor 2

Synonyms:

SBF2, 4833411B01Rik, Mtmr13, mMTMH1, B430219L04Rik

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 Sbf2 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.

Human diseases associated with Sbf2 (2 diseases)
Human diseases predicted to be associated with Sbf2 (232 diseases)

The table below shows human diseases associated to Sbf2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Type 4B2		Decreased motor nerve conduction velocity	OMIM:604563
Charcot-Marie-Tooth Disease Type 4B2		Optic atrophy, Decreased distal sensory nerve action potential	ORPHA:99956

The table below shows human diseases predicted to be associated to Sbf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ...	OMIM:616040
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity	ORPHA:2932
Parkinsonism With Polyneuropathy	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ...	OMIM:619279
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Abnormal motor nerve conduction velocity	OMIM:158580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity	OMIM:605726
Charcot-Marie-Tooth Disease, Type 4J	Decreased nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:611228
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:608323
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased nerve conduction velocity, Decreased distal sensory nerve action potential, Decreased m...	OMIM:601098
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, EEG abnormality, Ataxia	OMIM:610951
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity	ORPHA:868
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials	OMIM:608673
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity	OMIM:620111
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Dystonia 31	Abnormal posturing	OMIM:619565
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity	ORPHA:101075
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity	OMIM:605253
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Decreased motor nerve conduction velocity	OMIM:162500
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Abnormalit...	ORPHA:90103
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction	ORPHA:101001
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Null Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity	ORPHA:280234
Diaminopentanuria	Neurodegeneration, Ataxia	OMIM:222350
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity	OMIM:616687
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral action potential amplitud...	ORPHA:457205
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity	ORPHA:1368
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity	OMIM:615376
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity	ORPHA:276435
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity	OMIM:608895
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity	OMIM:613287
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity	OMIM:607706
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy	ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity	ORPHA:101078
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity	ORPHA:352675
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity	OMIM:618404
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Facial palsy, Decreased motor nerve conduction velocity	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity	OMIM:606595
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity	ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velo...	OMIM:609260
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Abnormal motor evoked potentials	ORPHA:99939
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity	OMIM:619862
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Congenital Myopathy 10A, Severe Variant	Abnormal motor nerve conduction velocity, Facial palsy	OMIM:614399
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity	OMIM:600361
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v...	OMIM:607684
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity	ORPHA:101082
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:66631
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity	OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:600882
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity	OMIM:614932
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Motor conduction block	ORPHA:99948
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity	ORPHA:2928
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:85446
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity	OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity	OMIM:620068
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity	OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity	OMIM:615284
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude	OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential	OMIM:618400
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor...	ORPHA:98755
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Postural t...	OMIM:615491
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Abnormal flash visual evoked...	OMIM:245200
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity	ORPHA:101077
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity	OMIM:249900
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology	ORPHA:90117
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity	OMIM:607734
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93476
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity	OMIM:607831
Huntington Disease-Like 1	Abnormal posturing, EEG abnormality	ORPHA:157941
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:603472
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity	OMIM:159550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity	OMIM:618138
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn...	OMIM:301830
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Motor...	ORPHA:99953
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor...	OMIM:606070
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity	OMIM:180800
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, EEG abnormality	OMIM:182290
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:99950
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity	ORPHA:435387
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity	OMIM:613724
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p...	ORPHA:485421
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Facial palsy, Decreased motor nerve conduction velocity, Head titubation	OMIM:608804
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:1933
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction	ORPHA:48431
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Writer's cramp, Dys...	OMIM:606159
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Abnormal posturing	ORPHA:216866
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity	ORPHA:3115
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:214400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:201300
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Decreased compound m...	OMIM:602433
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity	ORPHA:319514
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude	OMIM:603511
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity	OMIM:607250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Degeneration of anterior horn cells	OMIM:604320
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity	OMIM:618356
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:270685
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:616688
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity	OMIM:118300
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Optic atrophy	OMIM:612674
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity	OMIM:614436
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:619026
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity	OMIM:118220
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:162400
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity	OMIM:604563
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Abnormal sensory nerve conduction velocity	ORPHA:88628
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	OMIM:256600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Lethal Congenital Contracture Syndrome 5	EEG with burst suppression, Decreased nerve conduction velocity	OMIM:615368
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity	OMIM:238970
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615419
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity	OMIM:619851
Dystonia 1, Torsion, Autosomal Dominant	Facial palsy, Abnormal posturing	OMIM:128100
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Sialidosis Type 1	Decreased nerve conduction velocity, EEG abnormality	ORPHA:812
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity	OMIM:118200
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Facial diplegia	ORPHA:329478
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	ORPHA:600
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:98856
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude	OMIM:618279
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity	ORPHA:565624
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of peripheral nerve conductio...	ORPHA:35069
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity	OMIM:614895
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua...	OMIM:601152
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Decreased compound muscle action potential amplitude	OMIM:620528
Optic Atrophy 11	Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sensory nerve conduction ve...	OMIM:617302
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206436
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:256840
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:616192
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity	OMIM:603516
Spinocerebellar Ataxia 1	Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p...	OMIM:164400
Friedreich Ataxia	Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action...	OMIM:229300
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity	OMIM:615490
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges,...	ORPHA:1187
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	ORPHA:298
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormality of peripheral nerve conduction	ORPHA:168563
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity	OMIM:302800
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity	OMIM:604168
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia	ORPHA:101085
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity	OMIM:609033
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy	OMIM:250100
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618733
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia	OMIM:618186
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity	OMIM:616652
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Hereditary Sensory And Autonomic Neuropathy Type 1	Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials	ORPHA:36386
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Optic ...	ORPHA:309271
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity	ORPHA:477817
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy	OMIM:610651
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ...	OMIM:609136
Hurler Syndrome	Abnormal nerve conduction velocity	ORPHA:93473
X-Linked Charcot-Marie-Tooth Disease Type 2	Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy	ORPHA:101076
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity	OMIM:270550
Unilateral Polymicrogyria	Abnormal posturing, Giant somatosensory evoked potentials	ORPHA:268943
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials	OMIM:608984
Cockayne Syndrome Type 1	Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction	ORPHA:90321
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy	OMIM:614863
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality...	ORPHA:909
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity	OMIM:615663
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc...	ORPHA:456312
Poliomyelitis	Abnormal motor nerve conduction velocity	ORPHA:2912
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci...	ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy	ORPHA:320375
Japanese Encephalitis	Decreased motor nerve conduction velocity, Paucity of anterior horn motor neurons, EEG with burst...	ORPHA:79139
Chediak-Higashi Syndrome	Decreased nerve conduction velocity	OMIM:214500
Vici Syndrome	Abnormal posturing	OMIM:242840
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity	OMIM:261515
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity	ORPHA:90658
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
Cockayne Syndrome B	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal...	OMIM:133540
Cockayne Syndrome A	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic atrophy, Abnormal...	OMIM:216400
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Friedreich Ataxia	Optic atrophy, Decreased motor nerve conduction velocity	ORPHA:95
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity	ORPHA:167
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Cockayne Syndrome	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:191
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Mucopolysaccharidosis Type 2	Decreased nerve conduction velocity, Papilledema, Optic atrophy	ORPHA:580
Cockayne Syndrome Type 3	Optic disc pallor, Abnormality of peripheral nerve conduction	ORPHA:90324
Wilson Disease	Decreased nerve conduction velocity	OMIM:277900
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis	ORPHA:99949
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity	OMIM:606002
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential	ORPHA:99956
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity	OMIM:615273
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system...	ORPHA:642
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction	OMIM:601992
Choreoacanthocytosis	Head titubation, Decreased amplitude of sensory action potentials, Abnormal autonomic nervous sys...	ORPHA:2388

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 Sbf2

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 Sbf2.

No publications found that use IMPC mice or data for Sbf2.

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
Sbf2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Sbf2^em1(IMPC)Bay	Exon Deletion	Mice
Sbf2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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