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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
Cerebellar hypoplasia, Neonatal death, Death in infancy, Agenesis of corpus callosum OMIM:616342

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Gait ataxia, C... ORPHA:268882
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitud... ORPHA:90117
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Cyanosis, Agenesis of corpus callosum... OMIM:207950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in... OMIM:618426
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Difficulty walking, Inability to walk, Facial diplegia, N... OMIM:611890
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Gait ataxia, Abnormal lower motor neuron morphology, Truncal ataxia, Unsteady gait, ... ORPHA:95434
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation, Inappropriate behavior, Abnormal upper motor neuron morphology, Per... OMIM:221770
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphology, Scle... ORPHA:252164
Juvenile Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance, Dysphagia ORPHA:247604
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Tremor, Death in infancy, Neonatal death, Jaundice, Dystonia, Dysphagia OMIM:617248
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spinocerebellar ... OMIM:215470
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Hypopnea OMIM:619562
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Difficulty walking, Inability to walk, Tremor, Abnormal lower motor neuron morphology, Dysphagia,... ORPHA:2590
Perching Syndrome
Respiratory distress, Dysphagia, Cyanosis OMIM:617055
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Apnea, Death in infancy OMIM:610992
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Hand tremor, Limb ataxia, Cerebellar hypopl... OMIM:607596
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Difficulty walking, Apnea, Hypoventilation, Dysphagia OMIM:619482
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Ataxia, Dystonia, Choreoathetosis ORPHA:71277
Hereditary Methemoglobinemia
Cerebellar atrophy, Limb dystonia, Cyanosis, Exertional dyspnea, Athetosis ORPHA:621
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:616437
Amyotrophic Lateral Sclerosis 2, Juvenile
Arm dystonia, Spastic gait, Tip-toe gait, Amyotrophic lateral sclerosis, Generalized dystonia, Di... OMIM:205100
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Motor axonal... ORPHA:52430
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Petechiae, Hypopnea ORPHA:2330
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Disinhibition, Abnormal lower motor neuron morphology, Dy... ORPHA:275872
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Motor axonal neuropathy, At... ORPHA:35689
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Abnormal upper motor neuron morphology, Gait disturbance, Orthostat... OMIM:263570
Machado-Joseph Disease Type 3
Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fourth ventricle, Abnormal lower ... ORPHA:276244
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Inability to walk, Apnea, Gait ataxia, Recurrent hand flapping, Cyanosis, Opi... OMIM:619580
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Cerebellar atrophy, Generalized dystonia, Motor axonal neuropathy, Tremor, Abnorma... OMIM:614298
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Difficulty walking, Dysphagia, Amyotrophic lateral sclerosis OMIM:613954
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss, Dystonia, Athetosis, Dysphagia OMIM:300857
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea, Apnea OMIM:616490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cyanotic episode ORPHA:284417
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Difficulty walking, Gait imbalance, Cyanosis, Dysplastic corpus cal... ORPHA:488627
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis, Loss of ambulation, Paroxysmal bursts of laughter, Dystonia, Restlessnes... ORPHA:391428
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve... ORPHA:221098
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia ORPHA:330012
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Dysphagia, Degeneration of anterior horn cells OMIM:617839
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Decreased size of nerve terminals, Exertional dyspnea, Orthopnea, Facial palsy ORPHA:98913
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, Abnormal pattern of respiration, ... ORPHA:79139
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity, Gait ataxia, Axonal degeneration,... ORPHA:88628
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal upper motor neuron m... OMIM:606070
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Myelitis, Abnormal cranial nerve morphology, Abnormal glos... ORPHA:297
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Congenital Myasthenic Syndrome
Tip-toe gait, Difficulty walking, Cyanosis, Episodic respiratory distress, Dysphagia, Ataxia, Apn... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Cyanosis, Episodic respiratory distress, Dysphagia, Ataxia, Apn... ORPHA:98914
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Dysphagia, Degeneration of anterior horn cells, Pseudobulbar paral... OMIM:105400
Bilateral Polymicrogyria
Cerebellar atrophy, Pseudobulbar paralysis, Facial diplegia, Abnormal glossopharyngeal nerve morp... ORPHA:268940
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Cerebellar hypoplasia, Truncal ataxia, Dystonia, Acrocyanosis, Intention tremor OMIM:614407
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Gait disturbance, Spastic gait OMIM:601162
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Anorexia, Dyspnea, Hypoxemia ORPHA:1302
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Exertional dyspnea, Cyanosis, Tremor OMIM:250800
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... ORPHA:300605
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Dysphagia, Amyotrophic lateral sclerosis OMIM:613435
Dravet Syndrome
Obsessive-compulsive trait, Action tremor, Progressive gait ataxia, Cyanotic episode, Impulsivity ORPHA:33069
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:612069
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Amyotrophic lateral sclerosis, Disinhibition OMIM:600274
Breath-Holding Spells
Cyanosis OMIM:607578
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:464453
Tetrasomy 5P
Cerebellar hypoplasia, Cyanosis, Hydrocephalus, Respiratory distress ORPHA:3309
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... OMIM:610921
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Amyotrophic lateral sclerosis OMIM:617892
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Histiocytoid Cardiomyopathy
Optic atrophy, Cerebellar malformation, Cyanosis, Agenesis of corpus callosum, Tachypnea, Hydroce... ORPHA:137675
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Aicardi-Goutieres Syndrome 1
Erythema, Inability to walk, Acrocyanosis, Petechiae, Self-mutilation, Prolonged neonatal jaundic... OMIM:225750
Amyotrophic Lateral Sclerosis 18
Dysphagia, Amyotrophic lateral sclerosis OMIM:614808
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Abnormal cranial nerve physiology, Episodic respirator... ORPHA:31826
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy, Ataxia OMIM:602473
Primary Pulmonary Hypoplasia
Apnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:2257
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Postural tremor, Dysphagia, Amyotrophic lateral sclerosis OMIM:608627
Tricuspid Atresia
Cyanosis ORPHA:1209
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Opisthotonus, Bruising susceptibility, Cyanosis ORPHA:335
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Agitation, Cyanosis, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity OMIM:620423
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Apnea, Cyanosis, Death in infancy, Ataxia, Optic disc pallor, Optic neuropathy OMIM:252010
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomica... ORPHA:168563
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis ORPHA:137914
Congenital Heart Block
Cyanosis ORPHA:60041
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea ORPHA:444013
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Exertional dyspnea ORPHA:2032
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Neonatal death, Death in infancy, Agenesis of corpus callosum OMIM:616342
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ataxia ORPHA:51188
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy OMIM:617478
Tarp Syndrome
Optic atrophy, Broad-based gait, Apnea, Cyanosis, Cerebellar hypoplasia ORPHA:2886
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Dysphagia, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Difficulty walking, Decreased nerve conduction velocity, Unsteady ... ORPHA:600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Sepsis In Premature Infants
Cyanosis, Petechiae, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Dysphagia, Agitation ORPHA:803
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Gait disturbance, Dysphagia, Cranial nerve paralysis, Acrocyanosis, Purpura, Urt... ORPHA:183
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia OMIM:610913
Meckel Syndrome 14
Holoprosencephaly, Occipital encephalocele, Cyanosis OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus OMIM:261740
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Cyanosis ORPHA:747
Pulmonary Capillary Hemangiomatosis
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:199241
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Purpura, Ataxia, Acrocyanosis, Urticaria ORPHA:343
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal pattern of respiration, Gait ataxia, Aganglionic megacolon, Agg... ORPHA:2896
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Syringomyelia, Abnormal pons morphology, Dystonia ORPHA:1320
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Central hypoventilation, Cyanosis, Ganglioneuroma, Hypoventi... ORPHA:293987
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Dyspnea, Hypoxemia ORPHA:2038
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Unilateral Polymicrogyria
Apnea, Cyanosis, Giant somatosensory evoked potentials, Pseudobulbar paralysis ORPHA:268943
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Respiratory distress, Cyanosis, Cerebellar hypoplasia, Hydrocephalus, Aqueducta... OMIM:306955
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Apnea, Cyanosis OMIM:617239
Esophageal Atresia
Respiratory distress, Cyanosis, Oral aversion, Episodic respiratory distress, Dysphagia ORPHA:1199
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Familial Dysautonomia
Optic atrophy, Gait disturbance, Orthostatic hypotension, Ataxia, Acrocyanosis ORPHA:1764
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:99106
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia ORPHA:555874
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Cyanosis ORPHA:1329
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:60025
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Telangiectasia, Hereditary Hemorrhagic, Type 1
Dyspnea, Tongue telangiectasia, Nail bed telangiectasia, Spinal arteriovenous malformation, Nasal... OMIM:187300
Leprosy
Abnormal seventh cranial physiology, Enlarged peripheral nerve, Steppage gait, Abnormal autonomic... ORPHA:548
Congenital Tracheomalacia
Dyspnea, Apnea, Cyanosis, Intercostal retractions ORPHA:95430
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Poems Syndrome
Papilledema, Acrocyanosis, Plethora ORPHA:2905
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dyspnea, Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, C... OMIM:610655
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Cyanosis ORPHA:99104
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis, Orthostatic hypotension OMIM:223900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Dyspnea, Palmar telangiectasia, Tongue telangiectasia, Nail bed telan... OMIM:600376
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Absence Of The Pulmonary Artery
Hypocapnia, Dyspnea, Orthopnea, Cyanosis ORPHA:980
Criss-Cross Heart
Cyanosis ORPHA:1461
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:2299
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Aicardi-Goutières Syndrome
Difficulty walking, Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia, Acrocyanosis ORPHA:51
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Exertional d... ORPHA:740
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Primary Hyperoxaluria
Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy ORPHA:416
Congenital Tracheal Stenosis
Respiratory distress, Dyspnea, Cyanosis ORPHA:141127
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Vasculitis in the skin, Abnormality of the peripheral nervous ... ORPHA:48435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis ORPHA:99050
Eisenmenger Syndrome
Respiratory distress, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:97214
Dermatomyositis
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ... ORPHA:221
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Decreased nerve conduction velocity, Apnea, Abnormal autonomic nervous s... ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea ORPHA:99125
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis 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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