Gene Summary

SAGA complex associated factor 29
Ccdc101,  1700023O11Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Sgf29tm1a(EUCOMM)Hmgu HET Early adult 2.27×10-05
tremors Sgf29tm1a(EUCOMM)Hmgu HET Early adult 1.69×10-05

Download data as:  TSV  XLS

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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 Sgf29 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 Sgf29 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Hypoglycemia, Leucine-Induced
Spasticity, Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Ataxia OMIM:616113
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Dystonia, Progressive cerebellar ataxia ORPHA:67046
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Hyperglycemia, Hyperinsulinemia OMIM:616214
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Tremor, Hemiplegia OMIM:141500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia OMIM:605909
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor OMIM:276880
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Dystonia 12
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia OMIM:128235
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Parkinson Disease 21
Rigidity, Tremor, Bradykinesia, Parkinsonism OMIM:616361
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive hypog... ORPHA:276608
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia OMIM:619651
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:618093
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity OMIM:619028
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Urocanic Aciduria
Gait ataxia, Action tremor, Truncal ataxia, Ataxia ORPHA:210128
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia OMIM:618049
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Leukodystrophy, Hypomyelinating, 11
Ataxia, Spasticity, Tremor, Myoclonus OMIM:616494
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia ORPHA:139485
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor OMIM:213200
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Diabetes mellitus, D... ORPHA:96
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia OMIM:619738
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dystonia OMIM:617916
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... OMIM:618877
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... ORPHA:79263
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Abnormal glucose homeostasis ORPHA:90117
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... OMIM:261640
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Dystonia, Ataxia OMIM:612126
3-Methylcrotonyl-Coa Carboxylase Deficiency
Spasticity, Hypoglycemia ORPHA:6
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Ins... ORPHA:363400
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Tremor, Ataxia OMIM:614018
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia OMIM:233910
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Spinocerebellar Ataxia Type 21
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... ORPHA:98773
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612438
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... ORPHA:99750
Pyruvate Carboxylase Deficiency
Hypoglycemia, Athetosis, Clonus OMIM:266150
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor OMIM:614307
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Dystonia, Intention t... OMIM:619725
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls OMIM:616719
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor OMIM:616795
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Dystonia, Bradykinesia OMIM:617435
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, Hypertonia OMIM:617106
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Dysmetria, Tremor, Ataxia OMIM:619405
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor ORPHA:1170
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... ORPHA:352649
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... OMIM:128100
Tremor ORPHA:212
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski sign, Scissor gait, T... OMIM:617013
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... OMIM:613280
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... OMIM:137440
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Ataxia... OMIM:300055
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor ORPHA:98764
Behr Syndrome
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls OMIM:210000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Hypoglycemia, Tremor, Hypertonia, Atheto... OMIM:617710
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia OMIM:607694
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Parkinsonism, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hy... ORPHA:1578
Hyperinsulinemia, Nonketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive hypogl... ORPHA:97279
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Tremor, Dystonia OMIM:208920
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Blepharospasm, Ataxia, Tremor OMIM:607876
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... ORPHA:240071
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor OMIM:618060
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... OMIM:312080
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... ORPHA:263455
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... OMIM:614381
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Ataxia, Dia... ORPHA:48818
Polyendocrine-Polyneuropathy Syndrome
Abnormal pyramidal sign, Type II diabetes mellitus, Ataxia, Hypoglycemia, Hypoinsulinemia, Dystonia ORPHA:453533
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia OMIM:300894
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:168600
Migraine, Familial Hemiplegic, 2
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor OMIM:602481
Adult-Onset Dystonia-Parkinsonism
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... ORPHA:199351
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia OMIM:616586
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia OMIM:615530
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Rigidity, Limb dystonia, Poor motor coordination, Ataxia, Tremor, Fasting hypoglycemia, A... ORPHA:25
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia ORPHA:240094
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... ORPHA:99027
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor OMIM:618527
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... OMIM:606002
Dysdiadochokinesis, Myoclonus, Choreoathetosis, Ataxia, Intention tremor, Diabetes mellitus, Slur... OMIM:208900
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia OMIM:146500
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid apraxia, Abnor... OMIM:234200
Supranuclear Palsy, Progressive, 1
Retrocollis, Parkinsonism, Rigidity, Eyelid apraxia, Limb dystonia, Tremor, Axial dystonia, Brady... OMIM:601104


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 Sgf29

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 Sgf29.

No publications found that use IMPC mice or data for Sgf29.

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MGI Allele Allele Type Produced
Sgf29tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sgf29tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sgf29tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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