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Gene: Cdk5 MGI:101765

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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:
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
Neonatal death, Death in infancy, Agenesis of corpus callosum, 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
Respiratory failure requiring assisted ventilation, Tremor, Cough, Dyspnea, Abnormality of the se... ORPHA:90117
Chiari Malformation Type Ii
Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopath... OMIM:207950
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... OMIM:611890
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Death in infancy, Respiratory distress, Cyanosis, Apnea, Neonatal respiratory... OMIM:618426
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait, Dysphagia OMIM:611637
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... ORPHA:95434
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Axonal loss, Disinhibi... OMIM:221770
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance, Dysphagia ORPHA:247604
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Dystonia, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dysphagia, Ne... OMIM:617248
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Respiratory insufficiency due to m... ORPHA:2590
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Respiratory insufficiency due to musc... OMIM:611067
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Intercostal muscle weakness, Hand tremor, Respiratory insufficien... OMIM:607596
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Abnormal... OMIM:606353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Joubert Syndrome 39
Hypopnea, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Apnea OMIM:610992
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia... OMIM:619482
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Dystonia ORPHA:71277
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Cranial nerve c... ORPHA:52430
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ... OMIM:602433
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Athetosis, Limb dystonia, Exertional dyspnea ORPHA:621
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616437
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Spastic gait, Dysphagia, Abno... ORPHA:35689
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Atax... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure, Diffi... OMIM:613954
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... ORPHA:1302
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Disinhibition, Dysphagia, ... ORPHA:275872
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Impulsi... OMIM:614298
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Inability to walk,... OMIM:619580
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ga... OMIM:263570
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Dilated... ORPHA:276244
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Athetosis, Axonal loss, Dysphagia 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
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res... ORPHA:98913
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... ORPHA:2004
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait dis... ORPHA:488627
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Chiari type I malformation, Abn... ORPHA:221098
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Inappropriate behavior, Falls, Shuffling gait, Spinocerebellar tract degene... ORPHA:412066
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Loss of ambulation, ... ORPHA:391428
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Congenital Myasthenic Syndrome
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... ORPHA:98914
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... ORPHA:1145
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re... ORPHA:79139
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory failure, Dysphagia OMIM:613435
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Gait ataxia, Ab... ORPHA:88628
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Facial palsy, Anorexia, Tremor, Abnormal glossopharyngeal ... ORPHA:297
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Disinhibition, D... OMIM:612069
Bilateral Polymicrogyria
Cerebellar atrophy, Facial diplegia, Pseudobulbar paralysis, Abnormal glossopharyngeal nerve morp... ORPHA:268940
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph... OMIM:105400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Cerebellar hypoplasia, Dystonia, Acrocyanosis, Intention tremor OMIM:614407
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Respiratory insufficiency, Dysphagia OMIM:617892
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Gait ataxia, Gait disturbance, Abnormal upper motor neuron morphology, Spastic gait OMIM:601162
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Amyotrophic lateral sclerosis, Ataxia, Head titubation, Abnormal cerebellum morph... ORPHA:300605
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... ORPHA:137914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Dravet Syndrome
Impulsivity, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Action tremor ORPHA:33069
Tetrasomy 5P
Respiratory distress, Cyanosis, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arterial hyperten... ORPHA:3309
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter OMIM:600274
Breath-Holding Spells
Cyanosis OMIM:607578
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis, Postural tremor, Dysphagia OMIM:608627
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Cerebellar malformation, Agenesis of co... ORPHA:137675
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Aicardi-Goutieres Syndrome 1
Dystonia, Cerebellar calcifications, Inability to walk, Erythema, Prolonged neonatal jaundice, Ac... OMIM:225750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... ORPHA:803
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Dysphagia OMIM:614808
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Respiratory insufficiency due... ORPHA:600
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Apnea, Ataxia, Optic neuropath... OMIM:252010
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Tricuspid Atresia
Cyanosis ORPHA:1209
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ataxia, Petechiae OMIM:602473
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Facial palsy, Episodic respiratory distress, Tachypnea, Addictive alcohol use, ... ORPHA:31826
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus ORPHA:335
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Buerger Disease
Acrocyanosis ORPHA:36258
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly OMIM:619879
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:616342
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Cough, Asthma, Respiratory insufficiency, Urticaria, Gait disturbance... ORPHA:183
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Tarp Syndrome
Broad-based gait, Cyanosis, Apnea, Optic atrophy, Cerebellar hypoplasia ORPHA:2886
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis OMIM:617478
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Dysphagia OMIM:615911
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Asp... ORPHA:1199
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... ORPHA:293987
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Pitt-Hopkins Syndrome
Aganglionic megacolon, Ataxia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocya... ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal pons morphology, Syringomyelia, Dystonia, Myelitis ORPHA:1320
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Giant somatosensory evoked potentials ORPHA:268943
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar ... OMIM:306955
Familial Dysautonomia
Orthostatic hypotension, Ataxia, Optic atrophy, Gait disturbance, Acrocyanosis ORPHA:1764
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Acrocyanos... OMIM:223900
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Steppage gait, Abnormal autonomic nervous sy... ORPHA:548
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Hyperoxaluria, Primary, Type I
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy OMIM:259900
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Shuffling gait, Pulmonar... ORPHA:740
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abnormality of the peripheral nervous sys... ORPHA:48435
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Aicardi-Goutières Syndrome
Cutis marmorata, Tremor, Prolonged neonatal jaundice, Difficulty walking, Dystonia, Acrocyanosis ORPHA:51
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Acrocyanosis, Apnea ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600

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) Cdk5rap2tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cdk5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdk5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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