Not currently registered for phenotyping at IMPC

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

Gene Summary

CDK5 regulatory subunit associated protein 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Cdk5rap1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdk5rap1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Decreased ... OMIM:618378
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Sudden death, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepa... OMIM:609016
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Exercise intolerance, Proximal muscle weakness in upper ... ORPHA:457050
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Elevat... OMIM:615158
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myalgia, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle muscl... ORPHA:352470
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers... ORPHA:99013
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Barth Syndrome
Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:302060
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle f... ORPHA:352447
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Hypertrophic cardiomyopathy, A... OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Mitochondrial swelling, Hypertrophic cardiomyopathy, Abnormal heart morphol... OMIM:618250
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis OMIM:610773
Cardiomegaly OMIM:227150
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 33
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, De... OMIM:617713
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... OMIM:500013
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit... OMIM:602541
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao... ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:619064
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Decreased ac... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Decreased activity of mitoc... OMIM:614702
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig... OMIM:115197
Cirrhotic Cardiomyopathy
Exercise intolerance, Postexertional symptom exacerbation, Congestive heart failure, Asthenia, El... ORPHA:57777
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia, Hepatomegaly ORPHA:35
Hsd10 Disease, Infantile Type
Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity,... ORPHA:391428
Danon Disease
Myocardial necrosis, Exercise intolerance, Atrioventricular block, Second degree atrioventricular... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 20
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Hepatic failure, D... OMIM:611126
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Elevated circulatin... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Increased variability in muscle fiber diameter, Mitocho... OMIM:615595
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension... OMIM:212138
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu... OMIM:201475
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Exercise intolerance, Elevated circulating hepatic transaminase concent... OMIM:614921
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, El... OMIM:620609
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased liver function, Hypoglycemia, Decreased activity of mitochondrial compl... OMIM:618839
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Sudden death, Tetralogy of Fallot, Patent foramen ovale, Ve... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Hypertrophic cardiomyopathy, Decreased activity of mitoch... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at... OMIM:615578
Scleroderma, Familial Progressive
Telangiectasia, Chromosome breakage, Abnormality of chromosome stability, Calcinosis OMIM:181750
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Decreased activity of mitochondrial compl... OMIM:619170
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Hyperglycemia, Portal hypertensi... ORPHA:465508
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Skeletal muscle autophagos... OMIM:619518
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Mitochondrial swelling, Perimembranous ventricular sep... OMIM:606812
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Congestive heart f... OMIM:601992
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Increased myocardial glycogen content, Ventricular fibrillat... OMIM:261740
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoglycemia, El... OMIM:608836
Naxos Disease
Dilated cardiomyopathy, Sudden death, Congestive heart failure, Right ventricular cardiomyopathy,... OMIM:601214
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma, Uterine leiomyosarcoma OMIM:150800
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Reduced... OMIM:266500
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dilated cardiomyopathy, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia OMIM:251110
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopa... ORPHA:308552
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomegaly ORPHA:858
Glycogen Storage Disease Ii
Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Exercise intolerance, Increased circ... OMIM:232300
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Myalgia, Cardiomeg... OMIM:619051
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Cardi... ORPHA:228308
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Fatigue, Hepatomegaly, Heart murmur ORPHA:99931
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepatomegaly, ... OMIM:252920
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle ... ORPHA:255210
Absence Of The Pulmonary Artery
Exercise intolerance, Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure... ORPHA:980
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Chronic pain, Elevated circulating alanine aminotransferase concentra... ORPHA:365
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Episodic abdominal pain, Hepatomegaly,... OMIM:268800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Exercise intolerance, Gastrointestinal hemorrhage, Congestive heart failur... ORPHA:363705
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Exercise intolerance, Atrioventricular block, Atrial flutter, Hyp... ORPHA:137675
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Myalgia, Limb muscle weakness, Cardiomegaly, Fatigue OMIM:619259
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity,... OMIM:277400
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Familial Aortic Dissection
Aortic regurgitation, Chest pain, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly,... OMIM:602782
Sickle Cell Disease
Splenomegaly, Cardiomegaly, Jaundice, Hepatomegaly, Abdominal pain, Hypertension, Hypoxemia OMIM:603903
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiom... OMIM:105210
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Double Outlet Left Ventricle
Cyanosis, Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid ... ORPHA:3427
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Increa... OMIM:252500
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Low alkalin... OMIM:618143
Hepatomegaly, Cardiomegaly, Acrocyanosis, Decreased muscle mass ORPHA:349
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Chest pain, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subar... ORPHA:91387
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis mul... OMIM:608013
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Elevated circulating hepatic transaminase concentration, Skeletal mus... OMIM:256040
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Limb hypertonia OMIM:620306
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Reduced circulating alpha-L-fucosidase activity, Splenomegaly, Cardiomegaly, Hepatomegaly, Macrog... OMIM:230000
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Myalgia, Myopa... ORPHA:14
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Cardiomegaly... ORPHA:95430
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia... OMIM:620371
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... ORPHA:97297
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenit... ORPHA:116
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Myocar... ORPHA:51608
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly, Hepatomega... ORPHA:96191
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250


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 Cdk5rap1

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 Cdk5rap1.

No publications found that use IMPC mice or data for Cdk5rap1.

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MGI Allele Allele Type Produced
Cdk5rap1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdk5rap1tm409603(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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