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:
p122-RhoGAP,  STARD12,  Arhgap7,  A730069N07Rik

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
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Ethanolaminosis
Cardiomegaly OMIM:227150
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Toxoplasmosis
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Intrauterine growth retardation, Hydrocephalus ORPHA:858
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Microcephaly ORPHA:1131
Isolated Klippel-Feil Syndrome
Spina bifida, Low posterior hairline, Ventricular septal defect, Webbed neck, Congenital muscular... ORPHA:2345
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus OMIM:269920
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Hepatomegaly, Abnormal tricuspid valve morphology ORPHA:1759
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertrophy of left ... OMIM:239850
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anterior hypopi... ORPHA:2162
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Schisis Association
Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Wildervanck Syndrome
Meningocele, Webbed neck, Low posterior hairline, Short neck ORPHA:3456
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Microcephaly, Branchial cyst ORPHA:435938
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Hemifacial Microsomia
Hydrocephalus, Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ... OMIM:164210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453499
Mulibrey Nanism
Myocardial fibrosis, Growth delay, Hepatomegaly, Cardiomegaly, Short stature, Intrauterine growth... OMIM:253250
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Amish Lethal Microcephaly
Hepatomegaly, Spina bifida, Lissencephaly ORPHA:99742
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Intrauterine growth re... OMIM:611134
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Low posterior hairline, Short neck, Cervical spina bifida OMIM:600122
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, H... ORPHA:2437
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Branchiootorenal Syndrome 1
Branchial fistula, Abnormal cerebral morphology, Branchial cyst OMIM:113650
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Short stature, Spleno... OMIM:256550
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Webbed neck, Meningocele, Hydranence... ORPHA:1393
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Short stature ORPHA:1327
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Cardiomegaly, Anemia OMIM:618838
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Patent ductus arteriosus, Tricuspid va... ORPHA:261337
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology, Ventricular s... ORPHA:352665
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Limitation of neck motion, Lipomyelomenin... ORPHA:268810
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Hypert... ORPHA:1517
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Renal tubular epithelial necrosis, Abnormality of neuronal migration, Hepatomegaly, P... ORPHA:228308
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mosaic Trisomy 9
Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Iniencephaly
Cystic hygroma, Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele... ORPHA:63259
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, P... OMIM:306955
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Bor Syndrome
Branchial cyst ORPHA:107
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Patent ductus arteriosus, Postnatal growth retardation, Umbilical hern... ORPHA:96191
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Intrauterine... OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyop... OMIM:616897
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormality of neuronal migration, Meningocele, Hypoplastic... ORPHA:991
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Hypertrophic cardiomyopathy OMIM:201475
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fistula, Microcephaly ORPHA:261330
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short stature OMIM:613320
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular septal defect, ... OMIM:256520
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
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short stature, Neonatal shor... ORPHA:2839
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Trisomy 18
Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Growth delay, A... ORPHA:3380
Familial Aortic Dissection
Patent ductus arteriosus, Cardiomegaly ORPHA:229
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gy... ORPHA:2671
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Intrauterine growth retardati... OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Histiocy... OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Abnormality of neuronal migration, Hepatomegaly, Polymicrogyria, Cardiomegaly, D... OMIM:608836
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Umbilical hernia OMIM:618143
Mucolipidosis Ii Alpha/Beta
Umbilical hernia, Hepatomegaly, Cardiomegaly, Splenomegaly, Severe postnatal growth retardation, ... OMIM:252500
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Rhizomelia, Cardiomegaly, Short stature, Bicuspid aortic valve, Patent fora... OMIM:245600
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Ventricular septal defect, Leukocytosis, Thrombocytopenia, An... OMIM:274000
Fibular Hemimelia
Thrombocytopenia, Spina bifida, Abnormal heart morphology ORPHA:93323
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Fucosidosis
Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Short stature, Splenomegaly OMIM:230000
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Umbilical hernia, Hepatomegal... ORPHA:581
Craniofaciofrontodigital Syndrome
Cardiomegaly, Short stature, Abnormal heart morphology OMIM:114620
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Fanconi Anemia
Spina bifida, Atrial septal defect, Growth delay, Patent ductus arteriosus, Pyridoxine-responsive... ORPHA:84
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Cardiomegaly ORPHA:255249
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Jacobsen Syndrome
Spina bifida, Pachygyria, Ventricular septal defect, Growth delay, Thrombocytopenia, Aortic valve... ORPHA:2308
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventricular septal def... ORPHA:567
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomegaly, Cardiomyopathy ORPHA:158687
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Trisomy 20P
Spina bifida, Short neck, Low posterior hairline, Umbilical hernia ORPHA:261318
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Branchial cyst, Abnormal heart morphology, Hypoplasia of the corpus callosum,... ORPHA:508488
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular septal de... ORPHA:508498
Greenberg Dysplasia
Stillbirth, Rhizomelia, Extramedullary hematopoiesis, Hepatomegaly, Neonatal death, Cardiomegaly,... OMIM:215140
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... OMIM:300967
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Postnatal growth retardation, ... OMIM:192350
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Branchiooculofacial Syndrome
Microcephaly, Short neck, Low posterior hairline, Branchial anomaly OMIM:113620
Aicardi Syndrome
Spina bifida, Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Polymicrogyria OMIM:304050
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Hydrocephalus, Ventricular septal defect ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Postnat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Postnat... ORPHA:363958
Aicardi-Goutières Syndrome
Arrhinencephaly, Chronic lymphatic leukemia, Cardiomegaly, Short stature, Hepatosplenomegaly, Neo... ORPHA:51
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93924
Yunis-Varon Syndrome
Atrial septal defect, Pachygyria, Ventricular septal defect, Arrhinencephaly, Postnatal growth re... ORPHA:3472
Bohring-Opitz Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Cardiomegaly, Short stature ORPHA:97297
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Large placenta, Visceromegaly, Umbilical hernia, Hepatomegaly, Car... ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Cardiomegaly, Anemia, Acanthocytosis ORPHA:14
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Patent ductus a... ORPHA:904
Schinzel-Giedion Syndrome
Myeloid leukemia, Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Growth delay, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Short stature, Spl... OMIM:256040
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Short stature, Aortic valve calc... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification 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
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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