banner
Genes Phenotypes Help, News, Blog

Gene: Cdk5 MGI:101765

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cyclin dependent kinase 5
Synonyms:
Crk6

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 Cdk5 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 Cdk5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Neonatal death, Death in infancy, Cerebellar hypoplasia OMIM:616342

The table below shows human diseases predicted to be associated to Cdk5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Inability to walk, Tremor, Abnormality of the seventh cranial nerve, Dyspne... ORPHA:90117
Arnold-Chiari Malformation Type I
Gait ataxia, Abnormality of the eleventh cranial nerve, Cranial nerve compression, Central sleep ... ORPHA:268882
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Syringomyelia, Atax... OMIM:207950
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Dystonia, Peripheral ... OMIM:611890
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Ataxia, Apnea, Hypopnea, Cerebellar atrophy, De... OMIM:618426
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait, Dysphagia OMIM:611637
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Unsteady gait, ... ORPHA:95434
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Gait imbalance, Spastic gait, Dysphagia ORPHA:247604
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Death in infancy, Jaundice, Apnea, Tremor, Dysphagia, Hypopnea, Respiratory ... OMIM:617248
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia OMIM:610992
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Axonal loss, Gait disturbance, Abnormal upper motor neuron morpholo... OMIM:221770
Primary Lateral Sclerosis, Juvenile
Spastic gait, Pseudobulbar paralysis, Loss of ambulation, Decreased compound muscle action potent... OMIM:606353
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Abnormal lower motor neuron morphology, Tremor... ORPHA:2590
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Difficu... OMIM:611067
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Pontocerebellar Hypoplasia, Type 1A
Respiratory insufficiency, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebell... OMIM:607596
Arnold-Chiari Malformation Type Ii
Meningocele, Cyanosis, Myelomeningocele, Aqueductal stenosis, Agenesis of corpus callosum, Hydroc... ORPHA:1136
Joubert Syndrome 39
Hypopnea, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Boucher-Neuhauser Syndrome
Gait ataxia, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Benign Schwannoma
Allodynia, Scleral schwannoma, Schwannoma, Abnormality of the twelfth cranial nerve, Peripheral s... ORPHA:252164
Perching Syndrome
Cyanosis, Respiratory distress, Dysphagia OMIM:617055
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Difficulty walking,... OMIM:619482
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Choreoathetosis, Ataxia, Central apnea, Dystonia ORPHA:71277
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Motor axonal neuropathy, Weakness of muscles of respiration, Abnormal ... ORPHA:52430
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea, Limb dystonia, Cerebellar atrophy, Athetosis ORPHA:621
Apnea, Central Sleep
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration OMIM:207720
Primary Lateral Sclerosis
Motor axonal neuropathy, Spastic gait, Cervical spinal cord atrophy, Abnormal lower motor neuron ... ORPHA:35689
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Disinhibition, Amyotrophic lateral sclerosis, Dysphagia OMIM:616437
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Tip-toe gait, Opisthotonus, Spastic gait, Ataxia, Abnormal lower motor neuron morpho... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Dyspha... OMIM:613954
Kasabach-Merritt Syndrome
Hypopnea, Purpura, Respiratory distress, Petechiae ORPHA:2330
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Dysphagia, Abnormal upper motor neuron morphology, Disinh... ORPHA:275872
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Amyotrophic Lateral Sclerosis 21
Aspiration, Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrop... OMIM:606070
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Ga... OMIM:263570
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron mor... OMIM:614298
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Degeneration of anterior horn cells, Progressive gait ataxia, Abnormal ... ORPHA:276244
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Amyotrophic lateral sclerosis, Dysphagia, Athetosis, Dystonia OMIM:300857
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Decreased size of nerve terminals, Orthopnea, Restrictive ventilato... ORPHA:98913
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Joubert Syndrome 23
Apnea, Cerebellar dysplasia, Dysplastic corpus callosum, Tachypnea OMIM:616490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Tip-toe gait, Choking episodes, Central sleep apnea, Ata... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Tip-toe gait, Choking episodes, Central sleep apnea, Ata... ORPHA:98914
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Dysph... OMIM:105400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Impaired oropharyngeal swallow response, Choking episodes, Dyspnea, Cough, ... ORPHA:2004
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea OMIM:263000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Gait imbalance, Lateral ventricle dilatation, Gait disturbance, Difficulty walking, Dys... ORPHA:488627
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Abnormal anterior horn cell morphology, Respiratory distress, Degenera... ORPHA:1145
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Loss of ambulation, Amyotrophic lateral sclerosis, Dysphagia OMIM:613435
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Japanese Encephalitis
Respiratory paralysis, Facial palsy, Decreased motor nerve conduction velocity, Paucity of anteri... ORPHA:79139
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Gait ataxia, Inability to walk, Choreoathetosis, Ataxia, Apnea, Impulsivity, Attention ... OMIM:619580
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy, Choreoathetosis, Loss of ambulation, Dystonia, Dysphagia, Restlessness ORPHA:391428
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... OMIM:610921
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Pulmonary arterial hypertension, Death in infancy, Apnea, Dyspnea, Respiratory failure,... OMIM:265120
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency, Amyotrophic lateral sclerosis, Dysphagia OMIM:617892
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Truncal ataxia, Acrocyanosis, Dystonia, Intention tremor OMIM:614407
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Disinhibition, Amyotrophic lateral sclerosis, D... OMIM:612069
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Falls, Shuffling gait, Short stepped shuffling gait, Abnormal neuron morpho... ORPHA:412066
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... ORPHA:2257
Spastic Paraplegia 9A, Autosomal Dominant
Gait ataxia, Spastic gait, Resting tremor, Gait disturbance, Abnormal upper motor neuron morphology OMIM:601162
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitia... OMIM:610913
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Tip-toe gait, Opisthotonus, Abnormal cerebellum morphology, Inability to walk, Ataxi... ORPHA:300605
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... ORPHA:79126
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Infant Acute Respiratory Distress Syndrome
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Opisthotonus, Exertional dyspnea OMIM:250800
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal lower motor neuron morphology ORPHA:93941
Breath-Holding Spells
Cyanosis OMIM:607578
Choanal Atresia
Cyanosis, Choking episodes, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway... ORPHA:137914
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Cerebellar hypoplasia, Hydrocephalus, Respiratory dist... ORPHA:3309
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Histiocytoid Cardiomyopathy
Cyanosis, Optic atrophy, Hydrocephalus, Cerebellar malformation, Cough, Agenesis of corpus callos... ORPHA:137675
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Dravet Syndrome
Progressive gait ataxia, Impulsivity, Cyanotic episode, Action tremor ORPHA:33069
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Difficulty walkin... ORPHA:600
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Optic atrophy OMIM:261680
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Dysphagia OMIM:614808
Frontotemporal Dementia
Disinhibition, Polyphagia, Amyotrophic lateral sclerosis OMIM:600274
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Tracheomalacia
Cyanosis, Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneu... ORPHA:95430
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea, Respiratory failure, Stridor ORPHA:444013
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Agitation, Dyspnea, Amyotrophic lat... ORPHA:803
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Respiratory insufficiency, Respiratory failure, Death in infancy, Ataxia, Apnea, Optic ... OMIM:252010
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO ORPHA:747
Aicardi-Goutieres Syndrome 1
Petechiae, Inability to walk, Purpura, Acrocyanosis, Erythema, Prolonged neonatal jaundice, Dysto... OMIM:225750
Tricuspid Atresia
Cyanosis ORPHA:1209
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis, Postural tremor, Dysphagia OMIM:608627
Encephalopathy, Ethylmalonic
Ataxia, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Tachypnea, Abnormal pattern of respiration, Alcoholism, Episodic respiratory di... ORPHA:31826
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal respiratory system physiology, Dy... ORPHA:90051
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Pulmonary Capillary Hemangiomatosis
Cyanosis, Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... ORPHA:199241
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Neonatal death, Death in infancy, Cerebellar hypoplasia OMIM:616342
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele OMIM:619879
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Buerger Disease
Acrocyanosis ORPHA:36258
Pulmonary Arteriovenous Malformation
Cyanosis, Pulmonary arterial hypertension, Telangiectasia, Pleural empyema, Hemothorax, Hypoxemia... ORPHA:2038
Tarp Syndrome
Cyanosis, Optic atrophy, Cerebellar hypoplasia, Apnea, Broad-based gait ORPHA:2886
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Asthma, Acrocyanosis, Cutis marmorata, Purpura, Gait disturbance, Sinu... ORPHA:183
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Pulmonary Alveolar Microlithiasis
Cyanosis, Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... ORPHA:60025
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Dysphagia OMIM:615911
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Complete Atrioventricular Septal Defect
Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Tachypnea ORPHA:860
Ethylmalonic Encephalopathy
Ataxia, Acrocyanosis, Petechiae ORPHA:51188
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency, Sudden episodic apnea ORPHA:159
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma, Chiari type I ... ORPHA:221098
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Dyspnea ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Esophageal Atresia
Oral aversion, Cyanosis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngo... ORPHA:1199
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... ORPHA:555874
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Ataxia, Erythema, Urticaria ORPHA:343
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased... ORPHA:99103
Tick-Borne Encephalitis
Myelitis, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal autonomic nervous sy... ORPHA:297
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Exe... OMIM:187300
Idiopathic Camptocormia
Myelitis, Syringomyelia, Amyotrophic lateral sclerosis, Abnormal pons morphology, Dystonia ORPHA:1320
Poems Syndrome
Pulmonary arterial hypertension, Acrocyanosis, Pleural effusion, Restrictive ventilatory defect, ... ORPHA:2905
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Unilateral Polymicrogyria
Cyanosis, Pseudobulbar paralysis, Epistaxis, Apnea, Giant somatosensory evoked potentials ORPHA:268943
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Asthma, Abnormal autonomic nervous system physiology, Ganglioneuroma, ... ORPHA:293987
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Abnormal glossopharyngeal nerve morphology, P... ORPHA:268940
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resis... ORPHA:99104
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Myelomeningocele, Aqueductal stenosis, Cerebellar hypoplasia, Hydrocephalus, Respirator... OMIM:306955
Leprosy
Abnormal autonomic nervous system physiology, Enlarged peripheral nerve, Epistaxis, Abnormality o... ORPHA:548
Pitt-Hopkins Syndrome
Gait ataxia, Aganglionic megacolon, Acrocyanosis, Ataxia, Abnormal pattern of respiration, Sleep ... ORPHA:2896
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Gait disturbance, Ataxia, Orthostatic hypotension ORPHA:1764
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Acrocyanos... OMIM:223900
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Absence Of The Pulmonary Artery
Cyanosis, Pulmonary arterial hypertension, Hypocapnia, Bronchiectasis, Recurrent pneumonia, Ortho... ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, C... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Pulmonary arterial hypertension... OMIM:600376
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Congenital Tracheal Stenosis
Cyanosis, Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing ORPHA:141127
Aicardi-Goutières Syndrome
Arrhinencephaly, Acrocyanosis, Cutis marmorata, Tremor, Difficulty walking, Prolonged neonatal ja... ORPHA:51
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Atrioventricular septal defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Pulmonary arterial hypertension, Shuffling gait, Prominent superficial blood vessels, E... ORPHA:740
Hyperoxaluria, Primary, Type I
Optic neuropathy, Acrocyanosis, Cutis marmorata, Optic atrophy OMIM:259900
Aortic Arch Interruption
Cyanosis, Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Goodpasture Syndrome
Cyanosis, Exertional dyspnea, Crackles, Restrictive ventilatory defect, Cough, Increased DLCO, Ta... OMIM:233450
Eisenmenger Syndrome
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, I... ORPHA:97214
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea, Pulmonary arterial hypertension ORPHA:99050
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Cutis marmorata, Optic atrophy ORPHA:416
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin, Abnormality of the perip... ORPHA:48435
Dermatomyositis
Respiratory insufficiency, Cutaneous photosensitivity, Pulmonary arterial hypertension, Acrocyano... ORPHA:221
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, Prematu... ORPHA:287
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respir... ORPHA:99125
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity, Acrocyanosis ORPHA:285
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress, Pulmonary arterial hypertension ORPHA:51608
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694

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 Cdk5

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 Cdk5.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Centrosome function is critical during terminal erythroid differentiation. The EMBO journal (June 2022) Cdk5rap2tm1a(EUCOMM)Wtsi PMC9289712
Cdk5rap3 is essential for intestinal Paneth cell development and maintenance. Cell death & disease (January 2021) Cdk5rap3tm1a(EUCOMM)Hmgu PMC7841144
CDK5RAP3 Deficiency Restrains Liver Regeneration after Partial Hepatectomy Triggering Endoplasmic Reticulum Stress. The American journal of pathology (September 2020) Cdk5rap3tm1c(EUCOMM)Hmgu 32926856
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdk5rap2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdk5rap2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdk5rap2tm1a(EUCOMM)Wtsi PMC6459510
CDK5RAP3, a UFL1 substrate adaptor, is crucial for liver development. Development (Cambridge, England) (January 2019) Cdk5rap3tm1c(EUCOMM)Hmgu Cdk5rap3tm1a(EUCOMM)Hmgu Cdk5rap3tm1b(EUCOMM)Hmgu 30635284
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)