Gene Summary

Name:
dpy-19-like 1 (C. elegans)
Synonyms:
1100001I19Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Dpy19l1em1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Dpy19l1em1(IMPC)Mbp HET Early adult 0.00
female infertility Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Dpy19l1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Dpy19l1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Dpy19l1 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 Dpy19l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Male sexual dysfunction, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labi... ORPHA:251510
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mac... ORPHA:91
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovari... ORPHA:90793
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary amenorrhea, Hypoplasia of the vagina, Polycystic ovaries,... ORPHA:90796
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Ambiguous genital... ORPHA:1772
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Nocturia, Tubulointerstiti... ORPHA:85450
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Polycystic ovaries, Elevated circulating luteinizi... ORPHA:572333
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fanconi Anemia, Complementation Group A
Ectopic kidney, Horseshoe kidney, Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Sickle Cell Anemia
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:608013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ventricu... OMIM:602782
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy, Hepatomegaly ORPHA:228308
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Horseshoe kidney, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, S... ORPHA:99413
Turner Syndrome
Ectopic kidney, Horseshoe kidney, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, S... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Horseshoe kidney, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, S... ORPHA:99228
Monosomy X
Ectopic kidney, Horseshoe kidney, Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, S... ORPHA:99226
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:252500
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Abnormal aortic v... ORPHA:581
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Cystinosis, Nephropathic
Glycosuria, Generalized aminoaciduria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:365
Bloom Syndrome
Azoospermia, Oligospermia, Premature ovarian insufficiency, Male infertility ORPHA:125
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly ORPHA:51
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Visceromegaly, Cardiome... ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:256040
Noonan Syndrome 1
Cryptorchidism, Male infertility, Hypospadias, Hypogonadism OMIM:163950
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Cardiomegaly ORPHA:3472
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Tetralogy of Fallot, Atrial septal defect, Hyp... ORPHA:904
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calcification, Cardiomegaly... OMIM:182250
Cystic Fibrosis
Hypercalciuria, Male infertility OMIM:219700
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy ORPHA:51608

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 Dpy19l1

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 Dpy19l1.

No publications found that use IMPC mice or data for Dpy19l1.

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MGI Allele Allele Type Produced
Dpy19l1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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