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

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.

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
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... OMIM:260300
Spastic Paraplegia 61, Autosomal Recessive
Scissor gait, Inability to walk, Spasticity, Spastic paraplegia, Difficulty walking OMIM:615685
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Death in childhood, Lethargy OMIM:618683
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Oculogyric crisis, Bradykinesia, Hypertonia, Broad-based gait, Parkins... OMIM:617384
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... ORPHA:98762
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Autosomal Dominant Spastic Paraplegia Type 3
Babinski sign, Gait disturbance, Rigidity, Frequent falls, Spastic gait, Bradykinesia, Lower limb... ORPHA:100984
Corticobasal Syndrome
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... ORPHA:101110
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... OMIM:618824
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... ORPHA:391411
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... ORPHA:71517
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Parkinsonism ORPHA:412066
Spinocerebellar Ataxia Type 5
Gait disturbance, Slurred speech, Incoordination ORPHA:98766
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... ORPHA:248111
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Focal dystonia, Br... ORPHA:240103
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Focal dystonia, Extrapyra... ORPHA:99750
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... OMIM:617225
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Spinocerebellar Ataxia 17
Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Broad-b... OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Falls, Bradykinesia... ORPHA:13
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Writer's cramp, Choreoathetosis, Chorea, Bradykinesia, Larynge... OMIM:606159
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... OMIM:618877
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Gait imbalance, Rigidity, Frequent falls, Shuffling gait,... ORPHA:75567
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Dystonia With Ringbinden
Dystonia, Gait disturbance, Chorea OMIM:224550
Huntington Disease
Clumsiness, Dystonia, Gait disturbance, Clonus, Gait imbalance, Involuntary movements, Rigidity, ... ORPHA:399
Chorea, Benign Hereditary
Gait disturbance, Chorea OMIM:118700
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradykinesia, Fas... ORPHA:98755
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... OMIM:300055
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis ORPHA:70594
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Progressive cerebe... OMIM:183090
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Bradykinesia, Upper motor neuron dysfunction, Spasticity OMIM:500001
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... ORPHA:157941
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremor, Pa... OMIM:168601
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Manganese Poisoning
Postural tremor, Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... OMIM:300623
Machado-Joseph Disease
Dystonia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Fa... OMIM:109150
Spinocerebellar Ataxia Type 8
Dystonia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Spasticity, Unsteady gait, Limb ata... ORPHA:98760
Neuroferritinopathy
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... ORPHA:157846
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopamine... ORPHA:254886
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... ORPHA:225147
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Intenti... ORPHA:171695
Parkinson Disease, Late-Onset
Dystonia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait, Parkinsonism OMIM:168600
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Perry Syndrome
Dystonia, Rigidity, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Parkinsonism OMIM:168605
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... ORPHA:240094
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Bradykinesia OMIM:614924
Progressive Supranuclear Palsy
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia OMIM:258450
Spinocerebellar Ataxia Type 13
Clumsiness, Torticollis, Myoclonus, Bradykinesia, Limb ataxia, Gait ataxia, Difficulty walking, T... ORPHA:98768
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Rett Syndrome
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Tremor by anatomical site, Rigidity, Bradykinesia, Cogwheel... ORPHA:97349
Dravet Syndrome
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... ORPHA:33069
Childhood-Onset Nemaline Myopathy
Clumsiness, Waddling gait, Difficulty walking, Bradykinesia ORPHA:171439
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... ORPHA:199351
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal muscular rigidity,... ORPHA:157946
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Parkinsonism with favorable res... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Dystonia, Gait disturbance, Rigidity, Eyelid apraxia, Choreoathetosis, Abnormality ... OMIM:234200
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retrocollis, Tremo... OMIM:601104
Supranuclear Palsy, Progressive, 2
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, R... OMIM:609454
Kufor-Rakeb Syndrome
Parkinsonism, Gait disturbance, Babinski sign, Lingual dystonia, Rigidity, Eyelid apraxia, Myoclo... ORPHA:306674
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkinsonism, Gait... ORPHA:93256
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Rigidity, Bradykinesia, Tremor, Spasticity ORPHA:2828
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:157640
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... ORPHA:309854
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Rigidity, Frequent falls, Abnormality of extrapyramidal motor function, Bradyki... ORPHA:254892
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... 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

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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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