Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adenylate cyclase 5
Synonyms:
AC5

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 Adcy5 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.

The table below shows human diseases associated to Adcy5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking ORPHA:324588
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus OMIM:619647
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651

The table below shows human diseases predicted to be associated to Adcy5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:168100
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... ORPHA:100984
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Postural tremor ORPHA:210571
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy, Chorea OMIM:618683
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:600116
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... OMIM:618418
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... OMIM:617225
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait OMIM:128235
Huntington Disease-Like 2
Rigidity, Action tremor, Bradykinesia, Chorea OMIM:606438
Parkinsonism With Polyneuropathy
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... OMIM:619862
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Scissor gait... ORPHA:521406
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Parkinsonism, Rigidity, Gait disturbance, Somatic sensory dysfunction, Shuffling ga... OMIM:221820
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... OMIM:300894
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Spastic tetraplegia OMIM:615643
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia ORPHA:71517
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Tremor, Ataxia, Bradykinesia OMIM:617836
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis OMIM:261640
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism OMIM:617384
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Shuffling gait, Short stepped shuffling gait ORPHA:412066
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... ORPHA:248111
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Involuntary m... OMIM:612067
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Hypermanganesemia With Dystonia 1
Decreased liver function, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Parkin... OMIM:613280
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia, Postural tre... ORPHA:101150
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Bradykinesia, Spasticity, Athetosis OMIM:500001
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gait OMIM:617435
X-Linked Dystonia-Parkinsonism
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... ORPHA:53351
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Bradykinesia, Parkinsonism with favorable response to ... OMIM:606693
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... OMIM:603516
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Fall... ORPHA:13
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Bradykinesia, Blepharospasm, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... OMIM:183090
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking ORPHA:306669
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor ORPHA:329284
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Bradykinesia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:98755
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Parkinsonism, Rigidity, Chorea, Tremor, Chore... OMIM:606159
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Gait distu... ORPHA:289560
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Action tre... ORPHA:254886
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Gait ... ORPHA:157941
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... ORPHA:102
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Episod... OMIM:601338
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, B... OMIM:109150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Huntington Disease
Gait imbalance, Inability to walk, Bradykinesia, Poor fine motor coordination, Clumsiness, Myoclo... ORPHA:399
Spinocerebellar Ataxia Type 8
Ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigidity, Spastic dysarthria, Ga... ORPHA:98760
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resting tremor, Abnor... ORPHA:227510
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Parkinsonis... ORPHA:98933
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait OMIM:615530
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination ORPHA:36387
Primary Progressive Freezing Gait
Gait imbalance, Bradykinesia, Babinski sign, Rigidity, Frequent falls, Shuffling gait, Difficulty... ORPHA:75567
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradyk... ORPHA:240071
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Difficulty walking, Ga... ORPHA:98768
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Hypermanganesemia With Dystonia 2
Inability to walk, Bradykinesia, Clumsiness, Tip-toe gait, Opisthotonus, Ankle clonus, Babinski s... OMIM:617013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxia, Rigidit... OMIM:258450
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Babinski sign... ORPHA:98808
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Parkinsonism, Rigidity, Cog... ORPHA:33069
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Gait disturbance, Cogwheel rigidity, Postural tremor, Abnorma... ORPHA:306682
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyrami... ORPHA:97349
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Parkinsonism, Rigidity, Gait disturbance, Shuffling gait OMIM:168601
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Bradykinesia OMIM:614924
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:171695
Perry Syndrome
Akinesia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Short stepped shuffling gait OMIM:168605
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tremor, Short stepped shuffling gait OMIM:168600
Childhood-Onset Nemaline Myopathy
Difficulty walking, Clumsiness, Bradykinesia, Waddling gait ORPHA:171439
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rol... OMIM:612953
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Slowed slurred speech, Bradykinesia OMIM:619827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Pa... OMIM:157640
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... OMIM:610217
Neuroferritinopathy
Bradykinesia, Blepharospasm, Resting tremor, Babinski sign, Parkinsonism, Chorea, Difficulty walk... ORPHA:157846
Progressive Supranuclear Palsy
Bradykinesia, Blepharospasm, Rigidity, Falls, Tremor, Unsteady gait ORPHA:683
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... ORPHA:466722
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, Stereotypical hand wringing, Gait disturbance,... ORPHA:778
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Gait disturbance, Gait... ORPHA:93256
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Tremor OMIM:146500
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... ORPHA:411602
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyelid apraxi... OMIM:609454
Kufor-Rakeb Syndrome
Hypertonia, Bradykinesia, Blepharospasm, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parki... ORPHA:306674
Autosomal Dominant Progressive External Ophthalmoplegia
Hypertonia, Ataxia, Bradykinesia, Resting tremor, Rigidity, Gait disturbance, Tremor, Cogwheel ri... ORPHA:254892
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyelid apraxi... OMIM:601104
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Falls, Chorea, Slurred speech, Hyp... ORPHA:2388
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking ORPHA:324588
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus OMIM:619647
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651

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 Adcy5

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 Adcy5.

No publications found that use IMPC mice or data for Adcy5.

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MGI Allele Allele Type Produced
Adcy5tm178585(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adcy5tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells

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