Gene Summary

Name:
diacylglycerol lipase, alpha
Synonyms:
Nsddr

IMPC Data Collections

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
decreased thigmotaxis Daglatm1a(EUCOMM)Wtsi HOM   Early adult 2.89×10-05
small spleen Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small liver Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased startle reflex Daglatm1a(EUCOMM)Wtsi HOM   Early adult 5.27×10-06
abnormal behavior Daglatm1a(EUCOMM)Wtsi HOM   Early adult 2.68×10-05
small heart Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small stomach Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased brain size Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased body length Daglatm1a(EUCOMM)Wtsi HOM Early adult 6.21×10-05
small thymus Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small lung Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Dagla 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 Dagla by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Intestinal malrotation, Abnormal biliary tract morphology, Pulmonary... ORPHA:3032
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal myocardium morphology, Bronchogenic cyst, Pneumonia, Abnorm... ORPHA:2357
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic stenosis... OMIM:615415
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Irritability, Pulmonary hypoplasia OMIM:615228
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Self-injurious behavior, Anxiety, Tremor, Aggressiv... OMIM:300978
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Ovarian neoplasm, ... ORPHA:157798
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Pancreatic cysts, Cholestasis, Bile duct proliferation, Intestinal malrotation... OMIM:208540
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Dysphagia, Patent foramen ovale ORPHA:89844
Intrinsic Factor Deficiency
Absence of intrinsic factor, Megaloblastic anemia, Increased mean corpuscular volume, Malabsorpti... OMIM:261000
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Atrial septal defec... ORPHA:2847
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Microphthalmia, Syndromic 9
Hypoplastic spleen, Agenesis of pulmonary vessels, Tetralogy of Fallot, Cryptorchidism, Atrial se... OMIM:601186
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly,... OMIM:617022
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepatomegaly, Esophagea... OMIM:263200
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hematemesis, Ventricular sept... OMIM:301068
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Cleft palate, Pulmonary hypoplasia ORPHA:2631
Scleroderma
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:801
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Microglossia, Abnormal heart morphology, Cleft palate, Pulmonary hypopl... OMIM:241800
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Microgastria, Cryptorchidism, Intestinal malrotation, G... OMIM:156810
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Inappropriate behavior, Exaggerated startle response, Abnormal fear/anxiety-re... ORPHA:309246
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Dystonia, Decreased liver function, Macro... ORPHA:79321
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Cryptorchidism, Intestinal malrota... OMIM:618280
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Duodenal stenosis, Annular pancreas, Abnormal lung mo... ORPHA:2470
Metachromatic Leukodystrophy
Abnormal stomach morphology, Dystonia, Abnormal duodenum morphology, Intussusception, Abnormal ga... ORPHA:512
Mirage Syndrome
Hypoplastic spleen, Achalasia, Leukopenia, Cryptorchidism, Gastroesophageal reflux, Anemia, Esoph... OMIM:617053
Stiff-Person Syndrome
Opisthotonus, Anxiety, Anemia, Exaggerated startle response, Depression, Agoraphobia OMIM:184850
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Exaggerated startle response, Agoraphobia ORPHA:3198
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Testicular seminoma ORPHA:281090
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Opisthotonus, Splenomegaly, Hepatomegaly, Apathy, Anemia, Dy... OMIM:608013
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Cryptorchidism, Atrial septal defect, Double outlet ri... OMIM:618316
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hep... OMIM:200995
Hydrocephalus With Associated Malformations
Intestinal malrotation, Pulmonary hypoplasia OMIM:236640
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Abnormal lung lobation, Rectovaginal fistula, Microgastria, Atrial septal defect, ... ORPHA:2538
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hepatic failure, Macronodular cirrhosis, Anemia,... ORPHA:699
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Gastroesophageal reflux, Athetosis, Limb dystonia, Emotional la... OMIM:608643
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Protein-losing enteropathy... ORPHA:731
Ménétrier Disease
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... ORPHA:2494
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Dystonia, Interstitial emphysema, Intention tremor, Inflammation of the lar... OMIM:619708
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Pentalogy Of Cantrell
Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, V... ORPHA:1335
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal mitral valve morphology, Abnormal gastric muc... ORPHA:1876
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Pulmonary hypoplasia, Patent foramen ovale OMIM:616867
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Hepatic cysts, Cystic liver disease, Pulmonary hypop... OMIM:612284
Scimitar Syndrome
Bronchogenic cyst, Tetralogy of Fallot, Pulmonary sequestration, Tricuspid atresia, Pulmonary art... ORPHA:185
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Macroglossia, Exaggerated startle response, Cardiomegaly OMIM:268800
Serkal Syndrome
Pulmonary hypoplasia, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Gastroesophageal reflux, C... ORPHA:263665
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Systemic Sclerosis
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:90291
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Kagami-Ogata Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia OMIM:263210
Congenital Diaphragmatic Hernia
Intestinal malrotation, Pulmonary hypoplasia ORPHA:2140
Gracile Bone Dysplasia
Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Marden-Walker Syndrome
High palate, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, High, narrow palate, Pylor... OMIM:248700
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia OMIM:617468
Meacham Syndrome
Tetralogy of Fallot, Accessory spleen, Atrial septal defect, Scimitar anomaly, Dextrocardia, Part... OMIM:608978
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal lung lobation, Abnormal heart valve morphology,... ORPHA:3384
Alg9-Cdg
Abnormal lung lobation, Right ventricular dilatation, Bifid uvula, Periportal fibrosis, Atrial se... ORPHA:79328
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Cryptorchidism, Anal atresia, Pulmonic stenosis, Aggressive behavior, Pyloric stenos... OMIM:619148
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Esophageal Atresia
Pulmonary hypoplasia, Morphological abnormality of the gastrointestinal tract, Gastrointestinal c... ORPHA:1199
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Anxiety, Panic attack, Ventricular septal defect, Hydrocele testis, Pulmona... OMIM:145420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Cleft pal... OMIM:616897
Reynolds Syndrome
Gastroesophageal reflux, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Dysphagia, C... ORPHA:779
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Minicore Myopathy With External Ophthalmoplegia
High palate, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Fryns Syndrome
High palate, Ectopic anus, Tetralogy of Fallot, Cryptorchidism, Intestinal malrotation, Gastroeso... ORPHA:2059
Primary Pulmonary Hypoplasia
Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atrial septal defect, Abno... ORPHA:2257
Atelosteogenesis, Type Ii
Cleft palate, Pulmonary hypoplasia OMIM:256050
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, High palate, Anal stenosis, Cryptorchidism, Atrial septal... OMIM:617063
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Cleft palate,... ORPHA:250999
Caudal Regression Syndrome
Cryptorchidism, Impulsivity, Anal atresia, Pulmonary hypoplasia ORPHA:3027
Fetal Akinesia Deformation Sequence
Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Intestinal hypoplasia ORPHA:994
Agnathia-Otocephaly Complex
Aglossia, Situs inversus totalis, Microglossia, Secundum atrial septal defect, Cleft palate, Pulm... OMIM:202650
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Exaggerated startle response, Aspiration pneumonia ORPHA:79255
Tay-Sachs Disease
Dystonia, Anxiety, Laryngeal dystonia, Dysphagia, Exaggerated startle response, Aspiration pneumo... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Exaggerated startle response OMIM:272750
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Periportal fibrosis, Intestinal malrotation, Lobulated tongue, Splenomegaly... OMIM:269860
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Pulmonary hypoplasia OMIM:231680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Bilateral lung agenesis, Ventricular septal defect, Pulmonary artery sten... OMIM:611812
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Cleft palate, Pulmonary hypoplasia OMIM:312150
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Patent foramen ovale, Gastroesophageal reflux, Rectal prolapse, Pyloric stenosis, Pulm... OMIM:613177
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Czeizel-Losonci Syndrome
High palate, Tracheoesophageal fistula, Dextrocardia, Hypoplastic nipples, Pulmonary hypoplasia ORPHA:2437
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Dystonia, Anxiety, Exaggerated startle response ORPHA:438216
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Absent gallbladder, Bifid uvula, Anal stenosis, Cryptorchidism, Atria... OMIM:145410
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Anal stenosis, Atrial septal defect, Gastroesophageal reflux, Anal atresia, Hydrocel... OMIM:614080
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Cleft palate, Pulmonary hypoplasia OMIM:253290
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Patent foramen ovale, Cardiomyopathy, Dysphagia, Secundum atrial septal defect, Pulm... OMIM:616866
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short uvula, Hepatic fibrosis, Cleft palate, Pulmonary hypoplasia OMIM:614091
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Cryptorchidism, Intrahepatic biliary dysgenesis, High, narrow palate, Macroglossia, ... OMIM:214100
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Malrotation of colon, Cleft palate, Pulmonary hypoplasia ORPHA:1190
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Intestinal malrotation, Lobulated tongue, Bile duct proliferati... OMIM:249000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Intestinal malrotation, Hamartoma of tongue, Microglossia, Ventricular sept... OMIM:263520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Diaphanospondylodysostosis
Abnormal liver lobulation, Cleft palate, Pulmonary hypoplasia OMIM:608022
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Fryns Syndrome
Chylothorax, Cryptorchidism, Intestinal malrotation, Atrial septal defect, Aganglionic megacolon,... OMIM:229850
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Recurrent pneumonia, Patent foramen ovale, Atrial septal defect, Bronchiecta... ORPHA:980
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Absent gallbladder, Tetralogy of Fallot, Esophageal diver... OMIM:617925
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Nephronophthisis 2
Pulmonary hypoplasia, Situs inversus totalis OMIM:602088
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Recurrent respirat... OMIM:208500
Mosaic Trisomy 1
Hepatic agenesis, Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Pulmonary hy... ORPHA:1692
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:615503
Pagod Syndrome
Pulmonary artery hypoplasia, Situs inversus totalis, Hypoplastic left heart, Abnormality of the p... ORPHA:991
Distal Tetrasomy 15Q
High palate, Atrial septal defect, Abnormal heart morphology, Hydrocele testis, Pulmonary hypoplasia ORPHA:314588
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Atrial septal defect, Abnormal lung morphology, Meckel... ORPHA:1708
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Intestinal malrotation, Gastroesophageal reflux, Cryptorchidism, Ag... OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Transposition of the great arter... OMIM:253800
Severe Congenital Nemaline Myopathy
Dysphagia, Pulmonary hypoplasia ORPHA:171430
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Pulmonary hypoplasia ORPHA:85166
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Aortopulmon... ORPHA:99050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tarp Syndrome
Tongue nodules, Tetralogy of Fallot, Abnormal duodenum morphology, Cryptorchidism, Atrial septal ... ORPHA:2886
Genitopatellar Syndrome
Cryptorchidism, Gastroesophageal reflux, Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal intestine morphology, Cleft palate ORPHA:1848
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Morphological abnormality of the gastrointestinal tract, Cryptorchidism, Abnormal ao... ORPHA:2990
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Tracheoesophageal fistula, Abnormal lung lobation,... ORPHA:958
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tetraamelia Syndrome 1
Adrenal gland agenesis, Anal atresia, Asplenia, Cleft palate, Peripheral pulmonary vessel aplasia... OMIM:273395
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Cryptorchidism, Atrial septal defect, Gastroesophageal reflux, Se... ORPHA:818
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Hepatomegaly, Severe B lymphocytopenia, Py... ORPHA:83617
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Tetrasomy 5P
High palate, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Lobulated tongue, Anal atresia, Cleft palate, Pulmonary hypoplasia, Bifid tongue OMIM:616300
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Abnormal heart morphology, Cleft palate, Pulmonary hypoplasia ORPHA:1865
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Dysphagia, Smooth tongue, Pulmonary hypoplasia OMIM:601559
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Respiratory infections in early life, Premature ovarian insufficiency, ... ORPHA:96179
Renal Agenesis
Pulmonary hypoplasia, Ventricular septal defect, Anal atresia ORPHA:411709
Dpagt1-Cdg
Emotional blunting, Hepatomegaly, Aggressive behavior, Anemia, Elevated hepatic transaminase, Hea... ORPHA:86309
Microcephaly-Micromelia Syndrome
Cleft palate, Pulmonary hypoplasia OMIM:251230
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single ventricle, Thyroid hypoplasia, Pulmonary hypoplasia, Abnormal cardiac septum morphology OMIM:308050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Peritonitis, Ileal atresia, Pulmonary hypoplasia OMIM:619351
Plaa-Associated Neurodevelopmental Disorder
High palate, Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Cleft palate, Ectopia cordis, Transposition of the great arteries OMIM:313850
Penile Agenesis
Rectal fistula, Cryptorchidism, Atrial septal defect, Tracheoesophageal fistula, Bilateral lung a... ORPHA:49
Greenberg Dysplasia
Hepatosplenomegaly, Bone marrow hypocellularity, Pancreatic islet-cell hyperplasia, Hepatomegaly,... OMIM:215140
Vacterl With Hydrocephalus
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Pulmonary hypoplasia ORPHA:3412
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Patent foramen ovale, Dystonia, Cryptorchidism, Atrial sep... ORPHA:438213
Tetrasomy 9P
High palate, Absent gallbladder, Bifid uvula, Patent foramen ovale, Cryptorchidism, Abnormal mitr... ORPHA:3310
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Glossoptosis, Cleft palate, Pulmonary hypoplasia, Abnormal cardi... ORPHA:90652
Neu-Laxova Syndrome
Bifid uvula, Opisthotonus, Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia ORPHA:2671
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Dysphagia, Exaggerated startle response OMIM:617527
Orofaciodigital Syndrome Type 4
Rectovaginal fistula, Bifid uvula, Absent testis, Perineal fistula, Bilateral lung agenesis, High... ORPHA:2753
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Aganglionic megacolon, Anal atresia, Pulmonary hypoplasia OMIM:236700
Viss Syndrome
Bifid uvula, High, narrow palate, Macroglossia, Double outlet right ventricle, Dysphagia, Ventric... OMIM:619472
Multiple Pterygium Syndrome, Escobar Variant
High palate, Cryptorchidism, Hypoplastic nipples, Cleft palate, Pulmonary hypoplasia OMIM:265000
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Schinzel-Giedion Syndrome
High palate, Hepatoblastoma, Recurrent pneumonia, Aganglionic megacolon, Macroglossia, Abnormal h... ORPHA:798
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Cleft palate, Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Oligomeganephronia
Pulmonary hypoplasia, Secundum atrial septal defect, Pulmonary venous occlusion ORPHA:2260
Raine Syndrome
High palate, Protruding tongue, Cleft palate, Pulmonary hypoplasia OMIM:259775
Distal Monosomy 15Q
Cryptorchidism, Double outlet right ventricle with doubly committed ventricular septal defect and... ORPHA:1596
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cleft palate, Pulmonary hypoplasia OMIM:616546
Fontaine Progeroid Syndrome
Protruding tongue, Absent nipple, Cryptorchidism, Atrial septal defect, Gastroesophageal reflux, ... OMIM:612289
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Cryptorchidism, Agenesis of pineal gland, Atrial septal defect, ... ORPHA:536471
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Repeated pneumothoraces, Torticollis, Mitral valve prolapse, Pulmonary hypoplasia ORPHA:536467
Atelosteogenesis Type Ii
Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia ORPHA:56304
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, High palate, Pneumothorax, Pulmonary hypoplasia OMIM:266910
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatoblastoma, Hepatosplenomegaly, Cryptorchidism, Atrial septal defect, Hypertrophic cardiomyop... ORPHA:96334
Fraser Syndrome 1
Cryptorchidism, Abnormality of the thymus, Abnormality of the small intestine, Abnormal heart mor... OMIM:219000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Anal atresia OMIM:271520
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Pulmonary hypoplasia, Absent nipple OMIM:200980
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse, Dysphagia, Intestinal obstruction, Thromb... ORPHA:666
Fraser Syndrome
High palate, Ectopic anus, Anal stenosis, Cryptorchidism, Anal atresia, Abnormal lung lobation, P... ORPHA:2052
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Cryptorchidism, Esophageal atresia, Anal atresia, Congenital hepatic fibrosis, Pulm... ORPHA:93271
Restrictive Dermopathy
Atrial septal defect, Aplasia/Hypoplastia of the eccrine sweat glands, Dextrocardia, Submucous cl... ORPHA:1662
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
High palate, Cryptorchidism, Atrial septal defect, Dysphagia, Ventricular septal defect, Exaggera... OMIM:619522
Neu-Laxova Syndrome 1
Patent foramen ovale, Cryptorchidism, Ventricular septal defect, Transposition of the great arter... OMIM:256520
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Pulmonary hypoplasia ORPHA:50945
Microphthalmia, Syndromic 1
High palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High, narrow palate, Rectal pro... OMIM:309800
Fetal Akinesia Deformation Sequence 1
High palate, Cryptorchidism, High, narrow palate, Cleft palate, Pulmonary hypoplasia OMIM:208150
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Genitopatellar Syndrome
Cryptorchidism, Atrial septal defect, Dysphagia, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
Restrictive Dermopathy 1
Submucous cleft hard palate, Atrial septal defect, Pulmonary hypoplasia OMIM:275210
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Persistent cloaca, Pulmonary hypoplasia ORPHA:1112
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Ulbright-Hodes Syndrome
Cryptorchidism, High palate, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Pallister-Killian Syndrome
Bifid uvula, Anal stenosis, Cryptorchidism, Intestinal malrotation, Supernumerary nipple, Atrial ... OMIM:601803
Craniofacial Microsomia
Pulmonary hypoplasia, Tetralogy of Fallot, Cleft palate, Ventricular septal defect OMIM:164210

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 Dagla

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 Dagla.

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

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MGI Allele Allele Type Produced
Daglatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Daglatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Daglatm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Daglatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Daglatm40176(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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