Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
deleted in liver cancer 1
Synonyms:
Arhgap7,  A730069N07Rik,  STARD12,  p122-RhoGAP

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 Dlc1 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 Dlc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Colorectal Cancer
OMIM:114500

The table below shows human diseases predicted to be associated to Dlc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ethanolaminosis
Cardiomegaly OMIM:227150
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Anemia, Thrombocytopenia, Intrauterine growth retardation, Cardiomegaly ORPHA:858
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Isolated Klippel-Feil Syndrome
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... ORPHA:2345
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Webbed neck, Branchial anomaly ORPHA:1131
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Infantile Sialic Acid Storage Disease
Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly OMIM:269920
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Umbili... OMIM:239850
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... OMIM:601005
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Tetralogy of F... ORPHA:2162
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Short stature, Growth delay, Intrauterine growth retardation, ... OMIM:253250
Amish Lethal Microcephaly
Spina bifida, Hepatomegaly, Lissencephaly ORPHA:99742
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal d... OMIM:306955
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Short neck, Cervical spina bifida, Low posterior hairline OMIM:600122
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta, Dextrocardia, ... ORPHA:2437
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Short stature, Bone-marrow foam cells, Cardio... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly OMIM:619051
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Short stature ORPHA:1327
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Branchial fistula, Ventricular septal defect, Patent duc... ORPHA:261337
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hydrocephalus, Hepatomegaly, Splenomegaly, Mitral va... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation, Cardiomegaly OMIM:618838
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Hydranencephaly, Ventricular septal defect, Meningocele, Spina b... ORPHA:1393
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cantú Syndrome
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... ORPHA:1517
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... ORPHA:352665
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Hepatomegaly, Pachygyria, Polymicrogyria, Abnormal myocardium morphology, Abnormal... ORPHA:228308
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... ORPHA:99776
Bor Syndrome
Branchial cyst ORPHA:107
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Cystic hygrom... ORPHA:63259
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... ORPHA:268810
Pagod Syndrome
Hypoplastic left heart, Short stature, Abnormality of the spleen, Situs inversus totalis, Meningo... ORPHA:991
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Short stature, Ventricular se... ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Branchial fistula, Atrial septal defect, Truncus arteriosus ORPHA:261330
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Fountain Syndrome
Spina bifida, Spina bifida occulta, Short stature ORPHA:3219
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Intrauterine growth retard... OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiome... OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Postnatal gr... ORPHA:96191
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... ORPHA:2369
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Treacher-Collins Syndrome
Encephalocele, Patent ductus arteriosus, Branchial fistula ORPHA:861
Neu-Laxova Syndrome 2
Spina bifida, Intrauterine growth retardation, Lissencephaly OMIM:616038
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... ORPHA:2839
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Hydranencephaly, Small placenta, Ventricular septal defect, Lis... OMIM:256520
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short stature OMIM:613320
Trisomy 18
Atrial septal defect, Holoprosencephaly, Short stature, Anencephaly, Ventricular septal defect, G... ORPHA:3380
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Anemia, Thrombocytopenia, Intraut... OMIM:608013
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Neu-Laxova Syndrome
Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia, Cardiomegaly OMIM:618886
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Short stature... OMIM:602782
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Short stature, Left ventricular hyper... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Severe postnatal growth retardation, Myelopathy, Enlarged kidney, Umb... OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocyto... OMIM:618278
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Umbilical hernia OMIM:618143
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Fibular Hemimelia
Thrombocytopenia, Spina bifida, Abnormal heart morphology ORPHA:93323
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Cardiomegaly ORPHA:255249
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal aortic valv... ORPHA:581
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiomegaly, Increased... OMIM:603903
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Polymicrogyria, Enlarged kidney, Dilated cardiomyopathy, Abnormality of neuronal mi... OMIM:608836
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... ORPHA:3384
Craniofaciofrontodigital Syndrome
Short stature, Cardiomegaly, Abnormal heart morphology OMIM:114620
Fanconi Anemia
Abnormal cardiac septum morphology, Hydrocephalus, Intrauterine growth retardation, Atrial septal... ORPHA:84
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... ORPHA:2092
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Short stature, Ventricular septal defect, Dilated cardiomyopathy, Delayed puberty, ... OMIM:614921
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Short stature, Thrombocytopenia, Ventricular septa... ORPHA:2308
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Sple... ORPHA:567
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Ogden Syndrome
Growth delay, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Postnat... OMIM:300855
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Short stature, Splenomegaly, Cardiomegaly OMIM:230000
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Leukocytosis, Atrioventricular canal defect, Short stature, Hepatosplenomeg... OMIM:274000
Trisomy 20P
Short neck, Spina bifida, Low posterior hairline, Umbilical hernia ORPHA:261318
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Thrombocyto... ORPHA:79330
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Cardiac fibroma OMIM:109400
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly ORPHA:158687
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Short stature, Tetralogy of Fallot, Ventric... ORPHA:508498
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Short stature, Hepatosplenomegaly, Arrhinencephaly, Chronic... ORPHA:51
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Craniofacial Microsomia
Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchia... OMIM:164210
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Vater/Vacterl Association
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Patent ductus ar... OMIM:192350
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short neck, Spina bifida occulta, Ventricular septal defect, Compl... ORPHA:508488
Yunis-Varon Syndrome
Hydrocephalus, Atrial septal defect, Short stature, Arrhinencephaly, Tetralogy of Fallot, Ventric... ORPHA:3472
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Liver Disease, Severe Congenital
Hepatomegaly, Atrial septal defect, Lymphocytosis, Splenomegaly, Anemia, Leukopenia, Ventricular ... OMIM:619991
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Short stature OMIM:208000
Aicardi Syndrome
Gray matter heterotopia, Polymicrogyria, Postnatal growth retardation, Pachygyria, Spina bifida OMIM:304050
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus, Atrioventricular canal defect OMIM:619480
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hydrocephalus, Hepatomegaly, Cardiomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... ORPHA:363958
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Hypoplastic left heart, Postnatal growth retardation, Short stature, Access... OMIM:180849
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Branchiooculofacial Syndrome
Short neck, Low posterior hairline, Branchial anomaly OMIM:113620
Campomelic Dysplasia
Hydrocephalus, Neonatal short-limb short stature, Disproportionate short-limb short stature, Spin... OMIM:114290
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Patent ductus arteriosus, Cardiomegaly ORPHA:91387
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Polycythemia, Enlarged kidney, Visceromegaly, Umbilical hernia, Hyper... ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Intrauterine growth retardation, Cardiomegaly, Short stature ORPHA:97297
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida OMIM:234100
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Anemia, Cardiomegaly ORPHA:14
Witteveen-Kolk Syndrome
Branchial fistula OMIM:613406
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Semilobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:220386
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Alobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93924
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Short stature, Microcytic anemia, Growth delay, Thrombocytopenia, Car... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Short stature, Mitral valve calcification, Sub... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly ORPHA:51608
Colorectal Cancer
OMIM:114500

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 Dlc1

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 Dlc1.

No publications found that use IMPC mice or data for Dlc1.

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MGI Allele Allele Type Produced
Dlc1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dlc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dlc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dlc1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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