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Gene: Dlc1 MGI:1354949

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

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 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ethanolaminosis
Cardiomegaly OMIM:227150
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hydrocephalus, Anemia, Intrauterine growth retardation, Thrombocytopenia ORPHA:858
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes OMIM:269920
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Triploidy
Hepatomegaly, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, ... ORPHA:3376
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se... OMIM:306955
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... OMIM:253250
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Meckel Syndrome, Type 2
Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Humero-Radial Synostosis
Meningocele ORPHA:3265
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... ORPHA:2437
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occ... ORPHA:2311
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... OMIM:256550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Anemia, Cardiomegaly OMIM:618838
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... ORPHA:2041
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... ORPHA:261337
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus... OMIM:231005
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida o... OMIM:613686
Amish Lethal Microcephaly
Hepatomegaly, Lissencephaly, Spina bifida ORPHA:99742
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epith... ORPHA:228308
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Hydrocephalus, Meningocele, Pate... OMIM:130720
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Asplenia,... ORPHA:99776
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Me... ORPHA:991
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... OMIM:616897
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Lissencephaly, Spina bifida OMIM:616038
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... ORPHA:96191
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... OMIM:617713
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short stature, Cardiomegaly OMIM:613320
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... ORPHA:1457
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, Intrauterin... OMIM:608013
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... ORPHA:508488
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Polymicrogyria OMIM:616546
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck OMIM:613776
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Hydrocephalus, Mitral valve prola... OMIM:245600
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Patent ductus... OMIM:602782
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Lissencephaly, Sho... OMIM:256520
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Intrauterine... OMIM:617022
Lathosterolosis
Hepatomegaly, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth... ORPHA:46059
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Umbilical hernia, Cardiomegaly OMIM:618143
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Myelopathy, Splenomegaly, Growth delay, Severe postnatal growth retar... OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Fibular Hemimelia
Thrombocytopenia, Spina bifida, Abnormal heart morphology ORPHA:93323
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... OMIM:603903
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... OMIM:620186
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Abnormality of neuronal migration, Polymicrog... OMIM:608836
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Hydrocephalus, Abnormal... ORPHA:581
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... ORPHA:3384
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Gro... OMIM:614921
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Short stature, Spina bifida, Hydrocephalus, Patent du... ORPHA:84
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Orofaciodigital Syndrome Vi
Short stature, Hypoplastic left heart, Occipital meningocele, Periventricular nodular heterotopia... OMIM:277170
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... ORPHA:2308
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short stature, Sple... ORPHA:567
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Absence Of The Pulmonary Artery
Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Growth delay, Abnormal cardiac... ORPHA:980
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly ORPHA:465508
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly ORPHA:158687
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Spina bifida, Short stature, Thrombocytopenia, Leukocyto... OMIM:274000
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
Trisomy 20P
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck ORPHA:261318
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Short stature... ORPHA:508498
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... OMIM:164210
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Fucosidosis
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes OMIM:230000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Short stature, Cardiomegaly OMIM:208000
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,... OMIM:619991
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363958
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly ORPHA:137675
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Arima Syndrome
Hepatomegaly, Growth delay, Gray matter heterotopia, Occipital meningocele, Anemia OMIM:243910
Aicardi Syndrome
Spina bifida, Postnatal growth retardation, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retard... OMIM:180849
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Disproportionate short... OMIM:114290
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida OMIM:234100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Bohring-Opitz Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Short stature, Cardiomegaly ORPHA:97297
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Large placenta, Umbilical hernia, Hypertrophic cardiomy... ORPHA:116
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:232300
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Cardiomegaly, Pachygyria, Postnatal growth retardation,... ORPHA:3472
Witteveen-Kolk Syndrome
Branchial fistula OMIM:613406
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Anemia ORPHA:14
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Knobloch Syndrome 1
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P... OMIM:267750
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... OMIM:304120
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93924
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Aicardi-Goutières Syndrome
Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, He... ORPHA:51
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Short stature, Cardiomegaly, Microcytic anemia, Splenomegaly, Growth delay, Thrombo... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Subvalvular ... OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Broad neck, Short neck OMIM:276820
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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