Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DAZ interacting protein 1
Synonyms:
2510025K24Rik,  2810422M04Rik

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 Dzip1 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 Dzip1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Short sperm flagella OMIM:619102

The table below shows human diseases predicted to be associated to Dzip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hypertension, Mitral regurgitation OMIM:173900
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Atrial fibrillation OMIM:616166
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Azoospermia ORPHA:2183
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Mitral val... OMIM:212093
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation OMIM:225320
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse, Mitral regurgitation ORPHA:3238
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Mass Syndrome
Mitral valve prolapse OMIM:604308
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Mitral regurgitation OMIM:606631
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... OMIM:193400
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction OMIM:145350
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia ORPHA:2248
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis OMIM:609008
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Patent foramen ovale, Mitral regurgitation OMIM:615539
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Central Core Disease
Mitral valve prolapse ORPHA:597
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular failure, Congestive heart failure, Right ventricular hyp... ORPHA:324604
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral valve prolapse, Gastrointestinal... OMIM:177850
Cap Myopathy
Mitral valve prolapse, Sinus tachycardia, Reduced systolic function ORPHA:171881
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... OMIM:614185
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology ORPHA:1277
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Re... ORPHA:758
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... ORPHA:500
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mitral valve prolapse, Cardiomyopathy, Mitral regurgitation OMIM:258450
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Myxomatous mitral valve degeneration OMIM:130090
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation... ORPHA:230851
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse, Myocardial infarction OMIM:236200
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect, Mitral regurgitation OMIM:619087
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Mitral valve prolapse, Atrial septal defect OMIM:300986
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Mit... OMIM:121050
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect OMIM:605822
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Noonan Syndrome 14
Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Hypertrophic cardiomyopathy OMIM:619745
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Von Willebrand Disease
Abnormal mitral valve morphology ORPHA:903
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Hypertension ORPHA:449291
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... OMIM:616749
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Fg Syndrome Type 1
Mitral valve prolapse, Pulmonary arterial hypertension, Atrial septal defect ORPHA:93932
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral regurgitation, Hematochezia, Mitral valve prolapse, Telangiectasia, Epistaxis OMIM:175050
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mitral valve prolapse, Facial... OMIM:602782
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Mitral ... ORPHA:284979
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Hypertension OMIM:616914
Loeys-Dietz Syndrome 4
Mitral valve prolapse, Bicuspid aortic valve OMIM:614816
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
8P11.2 Deletion Syndrome
Mitral valve prolapse, Atrial septal defect, Azoospermia ORPHA:251066
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Arterial rupture, Congestive heart failure ORPHA:1900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia ORPHA:137605
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Hypertension ORPHA:730
Enthesitis-Related Juvenile Idiopathic Arthritis
Mitral valve prolapse, Dilatation of the ventricular cavity, Aortic regurgitation, Abnormal heart... ORPHA:85438
Scimitar Syndrome
Tricuspid atresia, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septa... ORPHA:185
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral regurgitation, Mitral valve prolapse, Aortic regurgitation, Hyperte... OMIM:611962
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... ORPHA:2847
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral valve prolapse, Dilated cardiomyopathy, Mitral regurgitation OMIM:607459
Shprintzen-Goldberg Syndrome
Mitral valve prolapse, Abnormal aortic valve morphology, Mitral regurgitation ORPHA:2462
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Tricuspid regurgitation, Mitral valve prolapse, Aortic regurgitation, Biven... OMIM:617402
Frontometaphyseal Dysplasia 1
Mitral valve prolapse, Cor pulmonale OMIM:305620
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... OMIM:154700
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Hypertension ORPHA:1192
Rheumatic Fever
Abnormal mitral valve morphology, Endocarditis, Abnormal aortic valve morphology, Myocarditis, Ar... ORPHA:3099
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion ORPHA:536532
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension OMIM:309350
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Tricuspid regurgitation, Mitral reg... ORPHA:2556
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Mitral valve prolapse ORPHA:369950
Polymyositis
Abnormal mitral valve morphology, Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atriove... ORPHA:732
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Mi... OMIM:601776
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Aortic regurgitation, Atrial septal defect OMIM:618371
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:536467
Marfan Syndrome
Mitral valve prolapse, Mitral valve calcification, Congestive heart failure ORPHA:558
Loeys-Dietz Syndrome 1
Mitral valve prolapse, Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect OMIM:609192
Costello Syndrome
Atrial septal defect, Pulmonic stenosis, Arrhythmia, Ventricular septal defect, Mitral valve prol... OMIM:218040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Mitral valve prolapse, Abnormal right ventricle morphology ORPHA:500095
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Mitral ... ORPHA:363700
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Mitral valve calcification, Cardiomegaly OMIM:231005
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... OMIM:300166
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Supravalvular ao... ORPHA:904
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Abnormal heart valve physiology, Orthostatic hypotension, Mitral regurg... ORPHA:287
Heterotaxy, Visceral, 1, X-Linked
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:306955
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Mitral valve prolapse, P... OMIM:180849
Atypical Werner Syndrome
Telangiectasia of the skin, Aortic valve calcification, Aortic valve stenosis, Mitral valve prola... ORPHA:79474
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Osteogenesis Imperfecta
Mitral valve prolapse, Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage ORPHA:666
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Leopard Syndrome 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Tetralogy of Fallot OMIM:613707
Williams-Beuren Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Myxomatous ... OMIM:194050
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mit... OMIM:613795
Stickler Syndrome
Mitral valve prolapse, Arrhythmia ORPHA:828
Loeys-Dietz Syndrome 2
Mitral valve prolapse, Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect OMIM:610168
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Recurrent intrapulmonary hemorrhage, Mitral valve prolapse, Arterial rupture, Diffuse... OMIM:130050
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Viss Syndrome
Double outlet right ventricle, Atrial septal defect, Right ventricular hypertrophy, Epidural hemo... OMIM:619472
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology ORPHA:1876
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... OMIM:605275
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Renovascular hypertension, Mitral valve prolapse, Internal hemorrhage... ORPHA:286
Alkaptonuria
Aortic valve calcification, Mitral valve calcification, Myocardial infarction, Abnormal heart val... ORPHA:56
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Abnormal cardiac septum morphology, Aortic regurgitation, Mitral atresia ORPHA:140952
Gaucher Disease Type 3
Aortic valve calcification, Mitral valve calcification, Abnormal myocardium morphology, Abnormal ... ORPHA:77261
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Truncus ar... ORPHA:2008
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Geleophysic Dysplasia 1
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure OMIM:231050
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Telangiectases of the cheeks, Abnormal atrioventricular valve p... ORPHA:576
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Atrial septal defect ORPHA:1292
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis ORPHA:96201
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:265380
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Tricuspid regurgitation, Mitral regurgitation, Pulmonary insufficiency, Sinus ta... OMIM:253200
Hutchinson-Gilford Progeria Syndrome
Mitral stenosis, Abnormal mitral valve morphology, Aortic valve calcification, Angina pectoris, A... ORPHA:740
Alkaptonuria
Aortic valve calcification, Mitral valve calcification OMIM:203500
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... ORPHA:163956
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis OMIM:617260
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Heart murmur, ... ORPHA:217085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Tricuspid stenosis, Pulmonic ste... OMIM:143095
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Heart murmur, ... ORPHA:217093
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Abnormal heart... ORPHA:580
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Abnormal aortic valve morphology, Reduc... ORPHA:581
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve ORPHA:1724
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Mitral valve calcification, Abnormal... ORPHA:355
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology ORPHA:1969
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Aortic valve calcification, Mitral valve calcification, Spontaneous, recu... ORPHA:2072
Hajdu-Cheney Syndrome
Mitral stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:955
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve calcifi... OMIM:619127
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Mitral valve calcification, Increased pulmonary vascular resistance ORPHA:60025
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, Hypoplastic left heart, Muscular ventricular septal defect, Mitral... OMIM:619503
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... ORPHA:2729
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Raynaud phenomenon, Oligosp... ORPHA:3310
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Short sperm flagella OMIM:619102

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 Dzip1

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 Dzip1.

No publications found that use IMPC mice or data for Dzip1.

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MGI Allele Allele Type Produced
Dzip1em1(IMPC)Ccpcz Exon Deletion Mice
Dzip1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dzip1tm112499(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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