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Gene: Herc3 MGI:1921248

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Gene Summary

Name:
hect domain and RLD 3
Synonyms:
5730409F18Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
trunk curl Herc3tm1a(EUCOMM)Wtsi HOM Early adult 2.29×10-11
increased lean body mass Herc3tm1a(EUCOMM)Wtsi HOM Early adult 7.07×10-05
abnormal response to new environment Herc3tm1a(EUCOMM)Wtsi HOM   Early adult 5.14×10-07
abnormal tail movements Herc3tm1a(EUCOMM)Wtsi HOM Early adult 8.81×10-05
tremors Herc3tm1a(EUCOMM)Wtsi HOM Early adult 4.94×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 66.67% (2 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 33.33% (1 of 3)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 33.33% (1 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 66.67% (2 of 3)
Oviduct N/A heterozygote 66.67% (2 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 66.67% (2 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 66.67% (2 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 66.67% (2 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Herc3tm1a(EUCOMM)Wtsi
forelimb, WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
forelimb, WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 189 images

Herc3tm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HOM, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HOM, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
tail skin, WT, Female, WTSI
Herc3tm1a(EUCOMM)Wtsi
abnormal hair follicle bulge morphology, HOM, Female, WTSI

Human diseases caused by Herc3 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 Herc3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Leg dystonia, Parkinsonism, C... OMIM:619565
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... ORPHA:401901
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Postural tremor, Abnormal pyramidal sign, Dementia, Progressive cerebellar ataxia ORPHA:85292
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Huntington Disease-Like 2
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Weight lo... OMIM:606438
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... ORPHA:101109
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Gait ataxia, Tremor, ... OMIM:615362
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:605909
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... ORPHA:216873
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... OMIM:618093
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia OMIM:128235
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Huntington Disease-Like 1
Involuntary movements, Memory impairment, Depression, Abnormal posturing, Incoordination, Chorea,... ORPHA:157941
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia OMIM:615768
Mohr-Tranebjaerg Syndrome
Mental deterioration, Spasticity, Abnormal posturing, Tremor, Dystonia OMIM:304700
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Tremor, Babinski sign, Hyper... OMIM:128100
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Chor... OMIM:261630
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxi... OMIM:615924
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Cognitive impa... OMIM:615483
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... ORPHA:251282
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Cognitive ... OMIM:617284
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Tremor, Rigidity, Dystonia, Parkinsonism wit... ORPHA:240085
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... OMIM:617145
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Deme... ORPHA:178509
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit hyperactivi... ORPHA:216866
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia ORPHA:716
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxi... OMIM:137440
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 50
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... OMIM:261640
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Caribbean Parkinsonism
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... ORPHA:97355
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Cognitive impairment, Motor deterio... ORPHA:79263
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... OMIM:619738
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Cognitive impairm... ORPHA:70594
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Confusio... ORPHA:282166
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Focal dystonia, Extrapyramidal muscular rigidity, Speech apr... ORPHA:99750
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Depression, Pill-rolling tremor, Re... OMIM:612953
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Myoclonus, Tremor, Ataxia OMIM:614018
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Cognitive ... ORPHA:542310
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia ORPHA:329284
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Glut1 Deficiency Syndrome 2
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia... OMIM:615157
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor, Irritability, Parkinsonism, Lowe... ORPHA:3077
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
Spinocerebellar Ataxia With Epilepsy
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Progressive neurologic deterioration, Dyst... ORPHA:254881
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... ORPHA:1170
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor OMIM:616269
Pelizaeus-Merzbacher Disease
Mental deterioration, Spastic paraplegia, Depression, Failure to thrive, Generalized dystonia, In... OMIM:312080
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Confusion, Chorea, Cogwheel rigidity, Action tremor, Gait ataxi... OMIM:607483
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Head tremor, Abnormality of extrapyramidal motor function, Dystonia, Abnormal pyramid... ORPHA:280219
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive impairment... ORPHA:98773
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Frequent f... ORPHA:2590
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Crigler-Najjar Syndrome Type 1
Memory impairment, Tremor ORPHA:79234
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Memory impairment, Depression, Resting tremor, Postural tremor, Gait ataxia... OMIM:300623
Classic Phenylketonuria
Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraplegia, Tremor, Attention de... ORPHA:79254
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia OMIM:607876
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Ataxia OMIM:617917
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Frontal lobe dementia, Chorea... ORPHA:157846
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hsd10 Disease
Spastic paraparesis, Short attention span, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis ORPHA:391417
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Cognitive imp... OMIM:208920
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Irritability, Dystonia, Opisthotonus, Pa... OMIM:617013
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Progressive neurologic d... OMIM:233910
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Br... OMIM:300894
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Dementia, Frequent falls OMIM:159950
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Co... ORPHA:352649
Saccharopinuria
Mental deterioration, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia ORPHA:3124
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Cognitive impairment, Ataxia, Dementia OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia OMIM:213200
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Emotional lability, Tremor, Dys... OMIM:300055
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Tremor, Irritability OMIM:615010
Ataxia With Vitamin E Deficiency
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hyperto... ORPHA:96
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Hemiplegia, Spastic diplegia, Emotional lability, Trem... ORPHA:206443
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, Limb dy... ORPHA:363400
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
4H Leukodystrophy
Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:289494
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Depression, Emotional lability, Tremor, Irritability, Rigidity,... ORPHA:683
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal... OMIM:616840
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Mohr-Tranebjaerg Syndrome
Mental deterioration, Focal dystonia, Generalized dystonia, Tremor, Ankle clonus, Babinski sign, ... ORPHA:52368
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A... OMIM:614298
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Axial dystonia... ORPHA:240071
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Failure to thrive, Abnormality of coordi... ORPHA:442835
Parkinson Disease, Late-Onset
Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:168600
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Perry Syndrome
Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Frontotemporal dementia, Brady... OMIM:168605
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Dysmetria, Ataxia OMIM:619405
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upper motor ... ORPHA:137898
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Myoclonus, Tremor, Rigidity... ORPHA:199351
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Tremor, Parkinsonism, Dementia,... ORPHA:329478
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Irritability, Babinski sign, Limb hypertonia, Dystonia ORPHA:35708
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Memory impairment, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski ... ORPHA:247234
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Young-Onset Parkinson Disease
Spasticity, Depression, Frontal lobe dementia, Short attention span, Tremor, Rigidity, Dystonia, ... ORPHA:2828
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Depression, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, De... OMIM:168601
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Aceruloplasminemia
Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Tremor... ORPHA:48818
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Parkinson Disease 20, Early-Onset
Mental deterioration, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykines... OMIM:615530
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive OMIM:614857
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Spastic gait, Tetraparesis, Gait ataxia, Action tremor, D... ORPHA:99027
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Tay-Sachs Disease
Memory impairment, Depression, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Frequent... ORPHA:845
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma... OMIM:105210
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Serotonin Syndrome
Mental deterioration, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hypertonia, D... ORPHA:43116
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia ORPHA:1578
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... ORPHA:25
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Depression, Tremor, Ataxia ORPHA:79095
Unilateral Polymicrogyria
Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti... ORPHA:268943
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Depression, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Spasticity, Depression, Tremor, Rigidity, Dystonia, Babinski... OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Memory impairment, Tremor, Babinski sign, Abnormal pyramidal sign, Dementia, Spasti... ORPHA:447753
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia OMIM:146500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Emotional lability, Tremor, Irritability, Ataxia OMIM:201100
Niemann-Pick Disease Type C
Mental deterioration, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Cog... ORPHA:646
Supranuclear Palsy, Progressive, 1
Memory impairment, Frontolimbic dementia, Limb dystonia, Axial dystonia, Retrocollis, Irritabilit... OMIM:601104
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Emotional lability, Tremor, Rigidit... ORPHA:2131
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Vici Syndrome
Abnormal posturing, Failure to thrive OMIM:242840

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 Herc3

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 Herc3.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Herc3tm1a(EUCOMM)Wtsi PMC6671969
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Herc3tm1a(EUCOMM)Wtsi PMC3996542
Optimising experimental design for high-throughput phenotyping in mice: a case study. Mammalian genome : official journal of the International Mammalian Genome Society (August 2010) Herc3tm1a(EUCOMM)Wtsi PMC2974211

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Herc3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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