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Gene: Cdk5rap1 MGI:1914221

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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:
CDK5 regulatory subunit associated protein 1
Synonyms:
2310066P17Rik

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 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
phenotypes		 Matching phenotypes Source
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Sudden death, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogena... OMIM:609016
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Increased mitochondrial number ORPHA:457050
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Increased mitochondrial number, Diabetes mellitus, ST segment elevation,... ORPHA:263297
Barth Syndrome
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... OMIM:302060
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l... OMIM:614096
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Myalgia ORPHA:352470
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise intolerance, Abnormal heart morphology, Exercise-induced myalgia, Myalgia, Palp... OMIM:618250
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis OMIM:610773
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Decreased pyruvate carboxylase activit... OMIM:229300
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Lower limb pain ORPHA:99013
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypoglycemia, Cardiomegaly, Abnormal lactat... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Ethanolaminosis
Cardiomegaly OMIM:227150
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Exercise intolerance, Cardiac arrest, Cardi... OMIM:617713
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Isolated Right Ventricular Hypoplasia
Fatigue, Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricul... ORPHA:439
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number ORPHA:352447
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Abdominal pain, Con... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Dec... OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased activity of mitochondrial co... OMIM:619064
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Decreased activity of mitochondrial complex III... OMIM:614702
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia ORPHA:35
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Cyanosis, Hypoglycemia, Cardiomegaly, Abno... ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Exercise intolerance, Hypoglycemia, Congestive heart failure, Dila... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615595
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy OMIM:602541
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypoglycemia, Sudden cardiac death, Arrhyth... ORPHA:156
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Exercise intolerance, Left... ORPHA:57777
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial... OMIM:618835
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... OMIM:601992
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... ORPHA:17
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Fatigue, Ventricular septal defect, Ele... OMIM:614921
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Diabetes mellitus, Portal hypertension, Cardiomegaly, Abdominal pain, Cong... ORPHA:465508
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Perimembranous ventricular septa... OMIM:606812
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 36
Decreased activity of mitochondrial complex I, Perimembranous ventricular septal defect, Cardiome... OMIM:619170
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... OMIM:300280
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability, Telangiectasia OMIM:181750
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Cardiac arres... OMIM:212138
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly OMIM:269920
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Exercise intolerance, Cardiomegaly, Congesti... OMIM:300257
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Conges... OMIM:261740
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Abnormal myocardium morphology, Decreased plasma free ca... ORPHA:228308
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... OMIM:618652
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... OMIM:266500
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Myalgia, Pulmonary arterial hyper... OMIM:619051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Exercise-induced myalg... OMIM:201475
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Fatigue, Left-to-right shunt, Abnormally loud pulmo... ORPHA:99104
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pu... ORPHA:555874
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cardiomegaly, Left ventricul... ORPHA:308552
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Idiopathic Pulmonary Hemosiderosis
Fatigue, Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Absence Of The Pulmonary Artery
Exercise intolerance, Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, C... ORPHA:980
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Exercise intolerance, Bicuspid aortic ... ORPHA:363705
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... ORPHA:255210
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Exercise intolerance, Urinary... OMIM:232300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myalgia OMIM:619259
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Urinary incontinence... OMIM:268800
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Abnormal circulating enzyme concentration or activity, Hepatomegaly, Exercise intoleranc... ORPHA:365
Familial Aortic Dissection
Aortic regurgitation, Chest pain, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly OMIM:251110
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... ORPHA:3427
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Hypoxemia, Hypertension OMIM:603903
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly OMIM:251100
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277400
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism, Low alkaline phosphatase, Elevated circulating alkali... OMIM:618143
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Cardiomegaly, Congestive... OMIM:252500
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... OMIM:300855
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... ORPHA:79330
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Fucosidosis
Hepatomegaly, Acrocyanosis, Cardiomegaly ORPHA:349
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure OMIM:608013
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp... ORPHA:3384
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenom... ORPHA:51
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Hip pain, Splenomegaly, Atrioventricular block, Reduced left ventricu... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myalgia ORPHA:14
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn... ORPHA:95430
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardio... OMIM:130650
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Impaired glucose tolerance, Cardiomegaly, Congestive... OMIM:256040
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, ... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidism, Splenomegaly, Hy... ORPHA:116
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Elevated alkaline phosphatase of bo... ORPHA:51608
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Arthralgia, Atrial septal defect, Ove... ORPHA:904
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Hypertension,... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250

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 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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