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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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, Agenesis of corpus callosum, Death in infancy 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
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Syringomyel... ORPHA:268882
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Abnormal cranial nerve physiology, Inability to walk, Tremor... ORPHA:90117
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity, Hypertrophic nerve c... DECIPHER:29
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Opisthotonus, ... OMIM:207950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Cerebellar atrophy, Death in infancy, Apnea, Ataxia, Cy... OMIM:618426
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Peripheral axonal ... 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, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia, Unsteady gait, Abnormal ... ORPHA:95434
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Aggressive behavior, Abnormal upper motor neuron morphology, Gait disturb... OMIM:221770
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Juvenile Primary Lateral Sclerosis
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Primary Lateral Sclerosis, Juvenile
Spastic gait, Decreased compound muscle action potential amplitude, Abnormal upper motor neuron m... OMIM:606353
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Tremor, Death in infancy, Neonatal death, Dystonia, Dysphagia, Apnea, Hypopnea OMIM:617248
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy, Gait ataxia,... 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, Waddling gait, Dysphagia, Abnormal lower motor neu... ORPHA:2590
Perching Syndrome
Cyanosis, Dysphagia, Respiratory distress OMIM:617055
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Apnea, Cyanotic episode, Death in infancy OMIM:610992
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking OMIM:611067
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Ataxia, Dysphagia, Lateral v... OMIM:607596
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Difficulty walking, Apnea, Dysphagia, Hypopnea OMIM:619482
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Choreoathetosis, Cyanosis, Central apnea ORPHA:71277
Hereditary Methemoglobinemia
Exertional dyspnea, Athetosis, Cerebellar atrophy, Limb dystonia, Cyanosis ORPHA:621
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Decreased compound muscle action potential amplitude, Axonal degeneration, Pa... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Disinhibition, Dysphagia OMIM:616437
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Tip-toe gait, Difficulty walking, Retrocollis, Abnormal upper motor neuron morpholo... OMIM:205100
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Sensory axonal neuropathy, Waddling gait, Cranial nerve compres... ORPHA:52430
Kasabach-Merritt Phenomenon
Petechiae, Purpura, Hypopnea, Respiratory distress ORPHA:2330
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Disinhibition, Dysphagia, ... ORPHA:275872
Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Moto... ORPHA:35689
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ga... OMIM:263570
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fourth v... ORPHA:276244
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Inability to walk, Tongue thrusting, Cerebellar atrophy, Recurrent hand flapping, Impul... OMIM:619580
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Oromandibular dystonia, Tremor, Cerebellar atrophy, Impulsivity, Gait disturbance,... OMIM:614298
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Difficulty walking, Dysphagia OMIM:613954
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
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode, Lateral ventricle dilatation ORPHA:284417
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Gait disturbance, Dysphagia, Late... ORPHA:488627
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress 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, Dystonia, Loss of ambulation, Dysphagia, Restlessness, Choreoathetosis, ... ORPHA:391428
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Chiari type I malformation, Oral-pharyngeal dysphagia... ORPHA:221098
High Altitude Pulmonary Edema
Anorexia, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Facial palsy, Decreased size of nerve terminals, Orthopnea, Cyanosis ORPHA:98913
Japanese Encephalitis
Anorexia, Pill-rolling tremor, Hyperintensity of MRI T2 signal of the spinal cord, Respiratory di... ORPHA:79139
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Axonal degenerati... OMIM:601596
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal peripheral nerve morphology by anatomical site, 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
Decreased nerve conduction velocity, Abnormal upper motor neuron morphology, Dysphagia, Abnormal ... OMIM:606070
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Tick-Borne Encephalitis
Anorexia, Abnormal glossopharyngeal nerve morphology, Myelitis, Abnormal cranial nerve morphology... ORPHA:297
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress ORPHA:1145
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Congenital Myasthenic Syndrome
Tip-toe gait, Difficulty walking, Sudden episodic apnea, Frontalis muscle weakness, Waddling gait... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Sudden episodic apnea, Frontalis muscle weakness, Waddling gait... ORPHA:98914
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia, Pseudobulbar paral... OMIM:105400
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Cerebellar ataxia associated with quadrupedal gait, F... ORPHA:268940
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Intention tremor, Dystonia, Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Resting tremor, Abnormal upper motor neuron morphology, Gait disturbance, Gait ataxia OMIM:601162
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress 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
Cryptogenic Organizing Pneumonia
Anorexia, Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:1302
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Oromandibular dystonia, Difficulty walking, Inability to walk, Axial dystonia, Retr... ORPHA:300605
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Tremor, Opisthotonus, Exertional dyspnea, Cyanosis OMIM:250800
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
Amyotrophic lateral sclerosis, Loss of ambulation, Dysphagia OMIM:613435
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity, Action tremor, Progressive gait ataxia ORPHA:33069
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Breath-Holding Spells
Cyanosis OMIM:607578
Laryngotracheoesophageal Cleft
Choking episodes, Impaired oropharyngeal swallow response, Dyspnea, Cyanosis ORPHA:2004
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Tetrasomy 5P
Hydrocephalus, Cerebellar hypoplasia, Cyanosis, Respiratory distress ORPHA:3309
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Death in infancy, Neonatal death, Apnea, Tachypnea, Cyanosis OMIM:265120
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Hypoxemia, Neonatal death, A... OMIM:610921
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Dysphagia OMIM:617892
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Asbestos Intoxication
Exertional dyspnea, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Histiocytoid Cardiomyopathy
Optic atrophy, Hydrocephalus, Cerebellar malformation, Agenesis of corpus callosum, Tachypnea, Cy... ORPHA:137675
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Aicardi-Goutieres Syndrome 1
Purpura, Inability to walk, Petechiae, Cerebellar calcifications, Prolonged neonatal jaundice, Dy... OMIM:225750
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Dysphagia OMIM:614808
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Ethylene Glycol Poisoning
Abnormal cranial nerve physiology, Facial palsy, Tachypnea, Addictive alcohol use, Ataxia, Abnorm... ORPHA:31826
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Ataxia, Death in infancy OMIM:602473
Primary Pulmonary Hypoplasia
Hypoxemia, Tachypnea, Cyanosis, Apnea ORPHA:2257
Amyotrophic Lateral Sclerosis 8
Postural tremor, Loss of ambulation, 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
Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus, Cyanosis ORPHA:335
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, Apnea, Cyanosis OMIM:620423
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic neuropathy, Death in infancy, Apnea, Ataxia, Cyanosis, Optic disc pallor OMIM:252010
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis, Dyspnea ORPHA:79126
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Steppage gait, Abnormality of peripheral nerve conduction, Abnor... ORPHA:168563
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Choanal Atresia
Choking episodes, Cyanosis, Respiratory distress 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, Exertional dyspnea, Acrocyanosis ORPHA:2032
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, Death in infancy OMIM:616342
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Opisthotonus ORPHA:3304
Ethylmalonic Encephalopathy
Petechiae, Ataxia, Acrocyanosis ORPHA:51188
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Partial agenesis of the corpus callosum, Death in infancy OMIM:617478
Tarp Syndrome
Optic atrophy, Broad-based gait, Apnea, Cerebellar hypoplasia, Cyanosis ORPHA:2886
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Dysphagia OMIM:615911
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Difficulty walking, Unsteady gait, Dysphagia, Amyotrophic la... ORPHA:600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Cyanosis ORPHA:90051
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis
Agitation, Dyspnea, Motor neuron atrophy, Dysphagia, Amyotrophic lateral sclerosis ORPHA:803
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Cranial nerve paralysis, Gait disturbance, Urticaria, Cutis marmorata, Dysphagia, Acrocy... ORPHA:183
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Dyspnea, Hypoxemia, Tachypnea, Cyanosis OMIM:610913
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Holoprosencephaly OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Apnea, Cyanosis, Respiratory distress OMIM:261740
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:199241
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Urticaria, Ataxia, Acrocyanosis, Erythema ORPHA:343
Pitt-Hopkins Syndrome
Hyperventilation, Aganglionic megacolon, Gait ataxia, Ataxia, Acrocyanosis, Abnormal pattern of r... ORPHA:2896
Idiopathic Camptocormia
Syringomyelia, Myelitis, Dystonia, Abnormal pons morphology, Amyotrophic lateral sclerosis ORPHA:1320
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hypoventilation, Polyphagia, Compulsive behaviors, Abnormal autonomic nervous system ... ORPHA:293987
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Dyspnea, Telangiectasia 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
Aqueductal stenosis, Respiratory distress, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia... OMIM:306955
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Difficulty walking, Cyanosis OMIM:617239
Esophageal Atresia
Respiratory distress, Dysphagia, Episodic respiratory distress, Cyanosis, Oral aversion ORPHA:1199
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Gait disturbance, Ataxia, Acrocyanosis ORPHA:1764
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99106
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis ORPHA:555874
Complete Atrioventricular Septal Defect
Tachypnea, Cyanosis, Intercostal retractions ORPHA:1329
Cardiogenic Shock
Hypoxemia, Cyanosis, Dyspnea, Orthopnea ORPHA:97292
Myasthenia Gravis
Dyspnea, Dysphagia, Acrocyanosis ORPHA:589
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Pulmonary Alveolar Microlithiasis
Exertional dyspnea, Dyspnea, Hypoxemia, Tachypnea, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Spinal arteriovenous malformation, Nail bed telangiectasia, Exertional dys... OMIM:187300
Leprosy
Abnormal seventh cranial physiology, Steppage gait, Abnormal autonomic nervous system physiology,... ORPHA:548
Congenital Tracheomalacia
Apnea, Cyanosis, Dyspnea, Intercostal retractions ORPHA:95430
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Poems Syndrome
Plethora, Papilledema, Acrocyanosis ORPHA:2905
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Lip telangiectasia, Nasal mucosa telang... OMIM:610655
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99104
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis OMIM:223900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Spinal arteriovenous malformation, Nail bed te... OMIM:600376
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Hypocapnia ORPHA:980
Criss-Cross Heart
Cyanosis ORPHA:1461
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Aortic Arch Interruption
Tachypnea, Cyanosis, Exertional dyspnea, Respiratory distress ORPHA:2299
Hyperoxaluria, Primary, Type I
Optic atrophy, Cutis marmorata, Optic neuropathy, Acrocyanosis OMIM:259900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Aicardi-Goutières Syndrome
Difficulty walking, Tremor, Prolonged neonatal jaundice, Cutis marmorata, Dystonia, Acrocyanosis ORPHA:51
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Exertional dyspnea, Premature skin wrinkling, Prominent superfic... ORPHA:740
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Primary Hyperoxaluria
Optic atrophy, Cutis marmorata, Optic disc pallor, Acrocyanosis ORPHA:416
Congenital Tracheal Stenosis
Cyanosis, Dyspnea, Respiratory distress ORPHA:141127
Postinfectious Vasculitis
Anorexia, Palpable purpura, Abnormality of the peripheral nervous system, Vasculitis in the skin,... ORPHA:48435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea ORPHA:99050
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Exertional dyspnea, Respiratory distress ORPHA:97214
Dermatomyositis
Facial erythema, V-sign, Cutaneous photosensitivity, Shawl sign, Telangiectasia of the skin, Dysp... ORPHA:221
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bru... ORPHA:287
Goodpasture Syndrome
Tachypnea, Cyanosis, Exertional dyspnea OMIM:233450
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Apnea, Acrocya... ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Exertional dyspnea, Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress 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