Gene Summary

Name:
SAGA complex associated factor 29
Synonyms:
Ccdc101,  1700023O11Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Sgf29tm1a(EUCOMM)Hmgu HET Early adult 4.41×10-05
tremors Sgf29tm1a(EUCOMM)Hmgu HET Early adult 1.69×10-05

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Viewing: all phenotypes

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
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Glutathionuria
Tremor OMIM:231950
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity OMIM:240800
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:600116
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Hypoglycemia OMIM:616113
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive h... ORPHA:276608
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 12
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... OMIM:604326
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Hypoglycemia ORPHA:67046
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... ORPHA:216873
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal ataxia OMIM:130950
Dystonia 24
Torticollis, Head tremor, Blepharospasm OMIM:615034
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism ORPHA:521406
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia OMIM:619028
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Urocanic Aciduria
Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Tremor OMIM:224500
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Neurodegeneration With Brain Iron Accumulation 5
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... OMIM:300894
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Spinocerebellar Ataxia 48
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis OMIM:612126
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... OMIM:213600
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Huntington Disease-Like 2
Chorea, Action tremor, Bradykinesia, Rigidity OMIM:606438
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Rigidity, Tremor OMIM:618090
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Primary Dystonia, Dyt2 Type
Involuntary movements, Blepharospasm, Torticollis, Tremor ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Gait ataxia, Tremor OMIM:618387
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormal glucose homeostasis, Limb fasciculations ORPHA:90117
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Spasticity OMIM:612716
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... OMIM:617145
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations OMIM:159950
Familial Dyskinesia And Facial Myokymia
Chorea, Resting tremor, Myoclonus, Limb hypertonia ORPHA:324588
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Fasciculations, Tongue fasciculations ORPHA:276435
Leukodystrophy, Hypomyelinating, 6
Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... ORPHA:98773
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Spasticity ORPHA:6
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... OMIM:615157
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia, Truncal ... OMIM:618877
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign OMIM:617435
Ataxia With Vitamin E Deficiency
Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Diabetes mellitus, Abnormal pyramidal ... ORPHA:96
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Myoclonus, Progressive cerebellar ataxia ORPHA:139485
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... ORPHA:79263
Hsd10 Disease
Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Insulin resistance, Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity,... ORPHA:363400
Beta-Propeller Protein-Associated Neurodegeneration
Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hypertonia, Spasticity OMIM:609260
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Rigidity, Choreoathetosis, Chorea, Bradykinesia, Tremor, Ataxia, Spasticity, Parki... OMIM:606159
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Bradykinesia, Extrapyramidal muscular rigidity... ORPHA:99750
Cystathioninuria
Tremor ORPHA:212
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Spinocerebellar Ataxia 42
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia OMIM:614831
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... ORPHA:53351
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Bradykinesia, Hemiparesis ORPHA:306669
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Tongue thrusting, Tremor, Stereotypical hand wringing, Apr... ORPHA:3095
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus ORPHA:2590
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia ORPHA:1170
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia OMIM:606703
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Ataxia, Titubation, Tremor OMIM:619405
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Tremor OMIM:607671
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements OMIM:233910
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic paraplegia OMIM:616586
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia OMIM:617810
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... ORPHA:99
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Progressive cerebellar... ORPHA:101
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Spinocerebellar Ataxia Type 27
Hand tremor, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia ORPHA:98764
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Choreoathetosis, Spastic gait, Bradykinesia, Spastic tetraplegia, Tremor, Ataxia, ... OMIM:300055
Insulinoma
Hyperinsulinemic hypoglycemia, Tremor, Reactive hypoglycemia, Fasting hyperinsulinemia, Recurrent... ORPHA:97279
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination OMIM:302800
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:208920
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Hypermanganesemia With Dystonia 1
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Poor fine motor coo... OMIM:613280
Peroxisome Biogenesis Disorder 5B
Dysmetria, Oculomotor apraxia, Ataxia, Tremor OMIM:614867
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Type I diabetes mellitus ORPHA:1192
4H Leukodystrophy
Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremor, Ataxia,... ORPHA:289494
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Spastic paraplegia ORPHA:477673
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Abnormal pyramidal sign OMIM:618060
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... ORPHA:137898
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Hypoglycemia, Hyperglycemia OMIM:220111
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Neuronal Intranuclear Inclusion Disease
Tremor, Ataxia, Rigidity OMIM:603472
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor ORPHA:70594
Ataxia-Telangiectasia
Type II diabetes mellitus, Tremor, Ataxia, Diabetes mellitus, Spasticity ORPHA:100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Spasticity, Stereotypy OMIM:618718
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:616505
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Truncal... ORPHA:228360
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia ORPHA:3124
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Parkinsonism, Resting tremor, Lower limb spasticity ORPHA:3077
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia ORPHA:529665
Pelizaeus-Merzbacher Disease
Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abnormal pyra... OMIM:312080
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Maturity-onset diabetes of the young, Tremor, Hypertonia, Parkinsonism ORPHA:1578
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Frequent falls, Lower limb spasticity, Tremor, Tetraplegia, Spastic diplegia, Slurred... ORPHA:206443
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Parkinson Disease 20, Early-Onset
Rigidity, Eyelid apraxia, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Sneddon Syndrome
Tremor, Hemiplegia OMIM:182410
Parkinsonism-Dystonia 2, Infantile-Onset
Tremor, Parkinsonism, Gait ataxia, Incoordination OMIM:618049
Amish Nemaline Myopathy
Tremor ORPHA:98902
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Blepharospasm, Tremor OMIM:128100
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Spontaneous Periodic Hypothermia
Tremor, Ataxia ORPHA:29822
Brain Dopamine-Serotonin Vesicular Transport Disease
Tremor, Abnormality of coordination, Hypertonia, Dysdiadochokinesis, Spastic tetraparesis, Ataxia... ORPHA:352649
Aceruloplasminemia
Involuntary movements, Rigidity, Torticollis, Chorea, Tremor, Ataxia, Diabetes mellitus, Parkinso... ORPHA:48818
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal pyramidal sign ORPHA:765
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity OMIM:304700
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... ORPHA:442835
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medicati... ORPHA:240071
Adult-Onset Autosomal Dominant Leukodystrophy
Babinski sign, Clonus, Head titubation, Dysmetria, Spastic gait, Intention tremor, Tremor, Ataxia... ORPHA:99027
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia OMIM:618056
Parkinson Disease, Late-Onset
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:168600
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic tetraplegia, Spastic paraplegia OMIM:612164
Nemaline Myopathy 5
Tremor OMIM:605355
Classic Phenylketonuria
Paraplegia, Tremor, Hypertonia, Hemiplegia ORPHA:79254
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Fasciculations, Vocal cord paresis OMIM:619574
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Fasting hypoglycemia, Poor motor coordination, Rigidity, Chorea, Tremor, Ataxia ORPHA:25
Tetanus
Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia ORPHA:3299
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myoclonus, Br... ORPHA:199351
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Type II diabetes mellitus ORPHA:79095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chorea, Progressive gait ataxia, Tremor, Oculomotor apraxia, Head tremor, Abnormal pyramidal sign... OMIM:606002
Perry Syndrome
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168605
Wolfram Syndrome 1
Tremor, Ataxia, Diabetes mellitus OMIM:222300
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Limb hypertonia, Dysmetria, Spastic tetraplegia, Neonatal hypoglycemia, Tremor, Ataxia ORPHA:572798
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Ataxia, Tetraparesis OMIM:617186
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Progressive Supranuclear Palsy
Tremor, Blepharospasm, Bradykinesia, Rigidity ORPHA:683
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Parkinso... OMIM:614298
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Frequent falls, Dysmetria, Myoclonus, Exaggerated startle res... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality of extrapyramidal motor func... OMIM:234200
Serotonin Syndrome
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia ORPHA:43116
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Spastic gait, Spastic dysarthria, Tremor, Abnormal pyramidal sign, Lower limb hype... ORPHA:447753
Ataxia-Telangiectasia
Choreoathetosis, Glucose intolerance, Myoclonus, Tremor, Ataxia, Diabetes mellitus OMIM:208900
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Thyrotoxic Periodic Paralysis
Paralysis, Respiratory paralysis, Tremor, Tetraplegia, Periodic hypokalemic paresis, Postprandial... ORPHA:79102
Supranuclear Palsy, Progressive, 1
Rigidity, Eyelid apraxia, Bradykinesia, Retrocollis, Tremor, Parkinsonism OMIM:601104

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 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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