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Gene: Adcy5 MGI:99673

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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:
adenylate cyclase 5
Synonyms:
AC5

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 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
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703

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
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... ORPHA:100984
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia OMIM:619052
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Limb dystonia, Babinsk... OMIM:618824
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d... OMIM:617384
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism OMIM:128235
Huntington Disease
Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Oculogyric crisis, Limb hype... ORPHA:238455
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:619279
Hypermanganesemia With Dystonia 1
Dystonia, Tremor, Elevated hepatic transaminase, Spastic paraparesis, Abnormality of extrapyramid... OMIM:613280
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hyperkineti... ORPHA:13
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Tremor, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:221820
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Short stepped shuffling gait, Shuffling gait ORPHA:412066
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Rigidity, Tremor, Hypertonia, Hemiballi... OMIM:618877
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Parkinsonism, Babinsk... ORPHA:289560
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Bradykin... ORPHA:98755
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Upper motor neuron dysfunction, Athetosis, Spasticity OMIM:500001
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Abnormality of extrapyramidal motor funct... OMIM:109150
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Ataxia, Bradykinesia, Unsteady ... ORPHA:98760
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Huntington Disease
Inability to walk, Dystonia, Clumsiness, Difficulty walking, Chorea, Gait disturbance, Poor fine ... ORPHA:399
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Gait ataxia, Steppage gait, Limb ataxia, Bradykinesia, Parkinsonism, Impai... OMIM:258450
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bradykinesia,... ORPHA:98808
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Neuroferritinopathy
Dystonia, Difficulty walking, Chorea, Palatal myoclonus, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Chorea, Spastic hemiparesis, Slurred speech, Abnormal pyramidal ... ORPHA:282166
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Impaired dis... ORPHA:98768
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramidal motor funct... ORPHA:306682
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, ... ORPHA:97349
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Spastic tetraparesis, Bradykinesia OMIM:614924
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Parkinsonian-Pyramidal Syndrome
Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Myoclonus, Babinski sign, Intentio... ORPHA:171695
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Intention tremor, Bradykinesia, Dy... OMIM:610217
Perry Syndrome
Dystonia, Tremor, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Parkinson Disease, Late-Onset
Dystonia, Tremor, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Dravet Syndrome
Cogwheel rigidity, Incoordination, Progressive gait ataxia, Poor fine motor coordination, Bradyki... ORPHA:33069
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Progressive spastic paraplegia, Bradykinesia, Weakness due to uppe... ORPHA:466722
Progressive Supranuclear Palsy
Dystonia, Tremor, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Childhood-Onset Nemaline Myopathy
Difficulty walking, Waddling gait, Clumsiness, Bradykinesia ORPHA:171439
Adult-Onset Dystonia-Parkinsonism
Dystonia, Eyelid apraxia, Clumsiness, Tremor, Parkinsonism with favorable response to dopaminergi... ORPHA:199351
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Eyelid apraxia, Tremor, Rigidity, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:234200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Truncal ataxia, Elevated hepatic transaminase, Spastic paraparesis,... ORPHA:309854
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bra... OMIM:157640
Rett Syndrome
Inability to walk, Limb apraxia, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, St... ORPHA:778
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Dysesthesia, Gait disturbance, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Intent... ORPHA:93256
Hereditary Late-Onset Parkinson Disease
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Akinesia, Resting trem... ORPHA:411602
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Bradykinesia, Parkinsonism, Babinski sign, Rigidity OMIM:146500
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Akinesia, Bradykinesia, Falls, Parkinsonism, Limb dystoni... OMIM:601104
Kufor-Rakeb Syndrome
Eyelid apraxia, Lethargy, Difficulty walking, Gait disturbance, Hypertonia, Blepharospasm, Abnorm... ORPHA:306674
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Falls, Parkinsonism, Rig... OMIM:609454
Young-Onset Parkinson Disease
Dystonia, Tremor, Bradykinesia, Rigidity, Gait imbalance, Spasticity ORPHA:2828
Choreoacanthocytosis
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Abnormal erythr... ORPHA:2388
Dihydropyrimidinase Deficiency
Extrapyramidal dyskinesia, Lethargy, Abnormal pyramidal sign, Reduced dihydropyrimidine dehydroge... OMIM:222748
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Lethargy, Elevated hepatic transaminase, Cogwheel rigidity, Abnormality of e... ORPHA:254892
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Opisthotonus, Limb hypertonia, Babinski sign, Clonus, Extrapyramidal dyskinesia... OMIM:612389
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Dyskinesia, Familial, With Facial Myokymia
Chorea, Dystonia, Limb hypertonia, Resting tremor OMIM:606703

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
Adcy5tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice
Adcy5tm178585(L1L2_Bact_P) Targeting vectors

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