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Gene: Bahcc1 MGI:2679272

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BAH domain and coiled-coil containing 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bahcc1 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 Bahcc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy OMIM:618683
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance OMIM:600116
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Tip-toe gait, Clonus, Spastic paraplegia OMIM:607584
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:605909
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr... ORPHA:454887
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia OMIM:617384
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus, Loss of ambulation... ORPHA:521406
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Apraxia, Spasticity OMIM:221820
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... OMIM:619911
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking ORPHA:306669
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Br... OMIM:607136
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Ataxia, Tremor, Rigidity OMIM:617836
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk... ORPHA:53351
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling gait ORPHA:412066
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Bradykinesia, Pro... OMIM:603516
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Spasticity OMIM:617435
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,... ORPHA:13
Huntington Disease-Like 2
Bradykinesia, Chorea, Rigidity, Action tremor OMIM:606438
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,... OMIM:618877
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at... OMIM:615157
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur... ORPHA:240071
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines... ORPHA:157941
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble... OMIM:606159
Multiple System Atrophy, Cerebellar Type
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... ORPHA:227510
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod... OMIM:601338
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Impaired tandem gait, Br... OMIM:300623
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Bradykinesia,... OMIM:617013
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinsonism with favorable response to ... ORPHA:254886
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination ORPHA:36387
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168605
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... ORPHA:306682
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradykinesia, Spastic dysarthria, Spas... ORPHA:98760
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... ORPHA:225147
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Difficulty walking ORPHA:171442
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Rigidity, Tremor, Bradykinesia, Limb hypertonia ORPHA:70594
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168600
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Myo... ORPHA:171695
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Bradykinesia, Gait ataxia, Clumsiness, Myoclonus, Difficult... ORPHA:98768
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Loss of ambulation ORPHA:228346
Childhood-Onset Nemaline Myopathy
Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking ORPHA:171439
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls ORPHA:683
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:97349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Steppage gait, Tru... OMIM:258450
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Bradykinesia, Blephar... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... OMIM:610217
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with... ORPHA:411602
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking ORPHA:778
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Intention... ORPHA:93256
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... OMIM:609454
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity ORPHA:2828
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... ORPHA:309854
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... OMIM:601104
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel rigidity, Hypertoni... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bahcc1

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 Bahcc1.

No publications found that use IMPC mice or data for Bahcc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bahcc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bahcc1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Bahcc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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