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
small spleen Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased brain size Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small stomach Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small lung Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased thigmotaxis Daglatm1a(EUCOMM)Wtsi HOM   Early adult 2.80×10-05
small thymus Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
small liver Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal behavior Daglatm1a(EUCOMM)Wtsi HOM   Early adult 2.90×10-05
decreased body length Daglatm1a(EUCOMM)Wtsi HOM Early adult 6.21×10-05
small heart Daglatm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased startle reflex Daglatm1a(EUCOMM)Wtsi HOM   Early adult 5.27×10-06

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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
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... OMIM:613490
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... OMIM:615524
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ... OMIM:208540
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Irritability, Pulmonary hypoplasia OMIM:615228
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pu... ORPHA:2847
Tonne-Kalscheuer Syndrome
Aggressive behavior, Tremor, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphol... OMIM:300978
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Agenesis of pulmonary vessels, Hyp... OMIM:601186
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Attention deficit hyperactivity diso... ORPHA:281090
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate ORPHA:2631
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Metachromatic Leukodystrophy
Dystonia, Abnormal stomach morphology, Tremor, Abnormal gallbladder morphology, Hemobilia, Neopla... ORPHA:512
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Alg3-Cdg
Abnormality of the gastrointestinal tract, Cardiomyopathy, Macroglossia, High palate, Decreased l... ORPHA:79321
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Aspi... OMIM:617053
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... ORPHA:2470
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... ORPHA:44890
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... OMIM:617022
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... ORPHA:731
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Interstitial emphysema, Bronchiectasis, Dysphagia, Inflammation of the large int... OMIM:619708
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Scimitar Syndrome
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... ORPHA:185
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthotonus, Pul... OMIM:608013
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3035
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy, Intestinal malrotation OMIM:601163
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology OMIM:263210
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul... ORPHA:1335
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... OMIM:612284
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Anemia, Depression OMIM:184850
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... OMIM:314390
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation ORPHA:2140
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux, Depression OMIM:620114
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung l... ORPHA:141127
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Hepatosplenomegaly, Depression, Aspiration pneumo... ORPHA:845
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... OMIM:608149
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:616733
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, C... OMIM:618280
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia OMIM:617468
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Hypoplasia... OMIM:613177
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Microglossia, Pulmonary hypoplasia, Cleft palate OMIM:241800
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Elli... OMIM:248700
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Pulmonary hypoplasia OMIM:255320
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partial anomalous pulmona... ORPHA:95430
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Pleural effusion, Pulmonary hypoplasia, Hy... OMIM:616897
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, High palate, Pulmonary hypoplasia, Dysphagia, Pate... OMIM:616866
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... OMIM:202650
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Pyloric stenosis, Anteriorly placed anus, Hig... OMIM:619148
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, High palate, Agitation OMIM:618056
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Aspiration pneumo... ORPHA:79255
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm... OMIM:611812
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale OMIM:620327
Alg9-Cdg
Hepatomegaly, Torticollis, Villous atrophy, Ventricular septal defect, Pericardial effusion, Abno... ORPHA:79328
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal cardiac sep... ORPHA:2059
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate,... ORPHA:250999
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Cleft palate OMIM:256050
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Pulmonary hypoplasia, Cleft palate ORPHA:994
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Tremor, Cleft palate, Hydrocele testis, Choreoathetosis, High palate, Gastroesopha... OMIM:614080
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Hypoplastic heart, Cleft palate OMIM:312150
Czeizel-Losonci Syndrome
Dextrocardia, Tracheoesophageal fistula, High palate, Pulmonary hypoplasia, Hypoplastic nipples ORPHA:2437
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Cryp... OMIM:214100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Cryptorchidism, Complete atrioventricular canal defect,... OMIM:617063
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Pulmo... OMIM:612530
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Hypoplastic heart, Cleft palate OMIM:253290
Caudal Regression Syndrome
Cryptorchidism, Anal atresia, Pulmonary hypoplasia, Impulsivity ORPHA:3027
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... OMIM:263520
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response OMIM:617864
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... OMIM:253800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defe... OMIM:270400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Dysphagia ORPHA:171430
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal lung morphology, A... ORPHA:1708
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Distal Triplication 15Q
Abnormal heart morphology, Hydrocele testis, High palate, Pulmonary hypoplasia, Atrial septal defect ORPHA:314588
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Diaphanospondylodysostosis
Abnormal liver lobulation, Pulmonary hypoplasia, Cleft palate OMIM:608022
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... ORPHA:980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia, Cleft palate, Abnormal heart morphology ORPHA:1865
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Gastroesophageal reflux OMIM:615574
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, High palate, Dystonia ORPHA:438216
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... ORPHA:99050
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cleft palate, Pulmonary hypoplasia, Pulmonary artery... ORPHA:1692
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Hypoplastic left ... ORPHA:991
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal... OMIM:617925
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,... ORPHA:958
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle OMIM:619879
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, High palate, Dystonia ORPHA:521426
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Cleft palate, High palate, Abnormal aortic valve morphology, Pulmonary hypoplasia... ORPHA:2990
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate ORPHA:85166
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Pulmona... ORPHA:2886
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality o... ORPHA:818
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... OMIM:249000
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Genitopatellar Syndrome
Atrial septal defect, Cryptorchidism, Gastroesophageal reflux, Pulmonary hypoplasia ORPHA:85201
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular septal defect, Cryptor... ORPHA:438213
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, High palate, Dysphagia OMIM:617527
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Tremor, Head-banging, Stereotyp... ORPHA:86309
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tetrasomy 5P
Recurrent respiratory infections, High palate, Pulmonary hypoplasia ORPHA:3309
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Adrenal gland ... OMIM:273395
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl... ORPHA:83617
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Oligomeganephronia
Secundum atrial septal defect, Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, High palate, Pulmonary hypoplasia OMIM:620369
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Anal atresia ORPHA:3412
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary ... ORPHA:3310
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate OMIM:313850
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia, Dysphagia OMIM:615636
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia, Microcolon, Ileal atresia OMIM:619351
Greenberg Dysplasia
Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet... OMIM:215140
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Pulmonary hypoplasia, Respiratory infections in early life, Decreased r... ORPHA:96179
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Pulmonary hypoplasia, Bifid ... OMIM:616300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, High palate, Pulmonary ... ORPHA:536467
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Cleft palate, Glossoptosis, Abnormal cardiac septum morphology, ... ORPHA:90652
Penile Agenesis
Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... ORPHA:49
Neu-Laxova Syndrome
Submucous cleft hard palate, Cleft palate, Opisthotonus, Pulmonary hypoplasia, Bifid uvula ORPHA:2671
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... OMIM:620025
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... ORPHA:2753
Congenital Myopathy 17
Respiratory tract infection, High palate, Pulmonary hypoplasia, Cleft palate OMIM:618975
Schinzel-Giedion Syndrome
Streak ovary, Myeloid leukemia, Aganglionic megacolon, Recurrent pneumonia, Abnormal heart morpho... ORPHA:798
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia OMIM:601559
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Pulmonar... ORPHA:536471
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Cleft palate OMIM:251230
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Thyroid hypoplasia, Single ventricle OMIM:308050
Fontaine Progeroid Syndrome
Atrial septal defect, Absent nipple, Bicuspid aortic valve, Protruding tongue, Cryptorchidism, Hi... OMIM:612289
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, Anal atresia OMIM:236700
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Cleft palate, Pulmonary hypoplasia, Hamartoma of tongue OMIM:616546
Atelosteogenesis Type Ii
Bilateral cleft palate, Pulmonary hypoplasia, Cleft palate ORPHA:56304
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Hypoplastic nipples OMIM:265000
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Protruding tongue OMIM:200600
Raine Syndrome
High palate, Pulmonary hypoplasia, Cleft palate, Protruding tongue OMIM:259775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Pulmonary artery s... ORPHA:96334
Fraser Syndrome 1
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal heart morphology, Abn... OMIM:219000
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Hydrocele testis, High p... OMIM:619522
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ... OMIM:606170
Acrorenal-Mandibular Syndrome
Absent nipple, High palate, Pulmonary hypoplasia, Narrow palate OMIM:200980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Anal atresia OMIM:271520
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Mitral valve prolapse, Pulmonary hypopla... ORPHA:666
Restrictive Dermopathy
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Trans... ORPHA:1662
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Protruding tongue ORPHA:50945
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Esophageal atresia, Cryptorchidism, Ectopic anus, Pulmonary hypoplas... ORPHA:93271
Fraser Syndrome
Anal stenosis, Cryptorchidism, Abnormal lung lobation, Ectopic anus, High palate, Pulmonary hypop... ORPHA:2052
Neu-Laxova Syndrome 1
Ventricular septal defect, Cryptorchidism, Cleft palate, Transposition of the great arteries, Pul... OMIM:256520
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Aganglionic megacolon, Aggressive behavior, Cryptorchidism, High, narrow p... OMIM:309800
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, High, narrow palate, Cleft palate, High palate, Pulmonary hypoplasia OMIM:208150
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia, Persistent cloaca ORPHA:1112
Restrictive Dermopathy 1
Atrial septal defect, Submucous cleft hard palate, Pulmonary hypoplasia OMIM:275210
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Ulbright-Hodes Syndrome
Cryptorchidism, Pneumothorax, High palate, Pulmonary hypoplasia ORPHA:3404
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, Cryptorch... OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate 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.

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
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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