Gene Summary

Name:
DENN/MADD domain containing 1A
Synonyms:
6030446I19Rik

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 Dennd1aem1(IMPC)Mbp HET Early adult 5.94×10-05
abnormal hindbrain development Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Dennd1aem1(IMPC)Mbp HET E9.5 0.00
abnormal forebrain development Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Dennd1aem1(IMPC)Mbp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Dennd1aem1(IMPC)Mbp HOM   E15.5 0.00
abnormal neural tube closure Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Dennd1aem1(IMPC)Mbp HET E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Dennd1a 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 Dennd1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Lithium Transport
Bipolar affective disorder OMIM:152420
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Geniospasm 1
Anxiety OMIM:190100
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Thickened superior cerebellar peduncle, Cerebellar ver... OMIM:610688
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Anencephaly, Agenesis of cerebellar vermis, Bile duct pro... OMIM:611134
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibros... OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1
Dandy-Walker malformation, Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polyspleni... OMIM:208540
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Meckel Syndrome, Type 7
Dandy-Walker malformation, Pancreatic cysts, Bile duct proliferation, Patent ductus arteriosus, H... OMIM:267010
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis h... OMIM:619111
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... ORPHA:567983
Meckel Syndrome, Type 6
Anencephaly, Hepatic fibrosis, Bile duct proliferation, Hydrocephalus, Cystic liver disease OMIM:612284
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... ORPHA:480520
Meckel Syndrome, Type 2
Dandy-Walker malformation, Bile duct proliferation, Meningocele, Anencephaly OMIM:603194
D-Bifunctional Protein Deficiency
Hepatomegaly, Cerebellar atrophy, Bile duct proliferation, Ventriculomegaly, Splenomegaly, Hepati... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Cerebellar atrophy, Bile duct proliferation, Elevated gamma-glutamyl... OMIM:618329
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Cerebellar atrophy, Bile duct proliferation, Micr... OMIM:203700
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Tachycardia, Cholesterol gallstones, Abnor... ORPHA:521219
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver di... ORPHA:79301
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... ORPHA:562639
Nphp3-Related Meckel-Like Syndrome
Dandy-Walker malformation, Abnormal liver parenchyma morphology, Abnormal biliary tract morpholog... ORPHA:3032
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Meckel Syndrome, Type 5
Bile duct proliferation, Anencephaly OMIM:611561
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... OMIM:301068
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hypertension, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... ORPHA:69663
Anemia, Congenital Dyserythropoietic, Type Ii
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Jaundice, Reti... OMIM:224100
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Hypertension, Cholangiocarcinoma, Hepatic... ORPHA:731
Meckel Syndrome, Type 1
Dandy-Walker malformation, Malformation of the hepatic ductal plate, Anencephaly, Asplenia, Bile ... OMIM:249000
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... ORPHA:65682
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Beta-Thalassemia Intermedia
Splenomegaly, Hepatosplenomegaly, Anemia of inadequate production, Jaundice, Leukocytosis, Elevat... ORPHA:231222
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary h... OMIM:619534
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Hypertension, Portal fibrosis, Bile duct proliferation, Patent ductus ... OMIM:613610
Alg3-Cdg
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... ORPHA:79321
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Pontocerebellar atrophy, Cholelithiasis, Primary ... OMIM:619273
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia ORPHA:79278
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Polycystic ... OMIM:208500
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Myotonic Dystrophy 1
Testicular atrophy, Atrial fibrillation, Cholelithiasis, Hypogonadism, Atrial flutter, Cerebral a... OMIM:160900
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, El... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... OMIM:619525
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Gray ma... OMIM:617622
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Cerebral calcification, Bile duct proliferation, Anemia, Cirrhosis, Hepatic steatos... OMIM:613658
Coach Syndrome 3
Molar tooth sign on MRI, Anemia, Portal fibrosis OMIM:619113
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Joubert Syndrome 9
Molar tooth sign on MRI, Hepatic fibrosis, Ventriculomegaly OMIM:612285
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Cerebellar atrophy, Cerebral white matte... ORPHA:356961
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Patent ductus arteriosus, Hydrocephalus, Hepatic failure, Cerebral atrophy, Eleva... OMIM:614886
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with e... OMIM:211600
Coach Syndrome 1
Hepatomegaly, Hypertension, Hepatic fibrosis, Aplasia/Hypoplasia of the cerebellar vermis, Spleno... OMIM:216360
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus call... ORPHA:1908
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Intrahepat... OMIM:605479
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Abnormal enzyme/co... ORPHA:79095
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Glycogen Storage Disease Vii
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... OMIM:232800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... ORPHA:83617
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Elevated alkaline phosphatase of ... ORPHA:100085
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Hypertension, Priapism, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Cholelithiasis, Epi... ORPHA:774
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Por... ORPHA:171
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Arima Syndrome
Hepatomegaly, Occipital meningocele, Brainstem dysplasia, Hepatic fibrosis, Agenesis of cerebella... OMIM:243910
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Hydrocephalus, Microcephaly ORPHA:1926
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:206448
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, A... ORPHA:436252
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Cholelithiasis, Myocardial infarction, Cerebral atrophy, Abnormal dentate nuc... OMIM:213700
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Accessory spleen, Hypoplasia of the brainstem, Hypoplasia of the corpus... OMIM:619306
Joubert Syndrome 1
Brainstem dysplasia, Occipital myelomeningocele, Hepatic fibrosis, Agenesis of cerebellar vermis,... OMIM:213300
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis ORPHA:309108
Fanconi Anemia, Complementation Group Q
Biliary atresia, Microcephaly OMIM:615272
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis ORPHA:3166
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dandy-Walker malformation, Cyst of the ductus choledochus, Abnormal cortical gyration, Hypoplasti... ORPHA:480880
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Orthostati... ORPHA:186
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Lissencephaly, Spina bifida, Hydrocephalus, Spi... ORPHA:63259
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Normochromic anemia, Bradycardia, Cholelithiasis, Thrombocytopenia OMIM:618775
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:68
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Cholelithiasis ORPHA:171876
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Pulmonary arterial hypertension, Anemia, Spl... ORPHA:77259
Ppoma
Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotropin level,... ORPHA:97278
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Biliary tract obstruction, Biliary tract neoplas... ORPHA:100086
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Abnormal T-wave, Hypoplasia of the pons, Ventriculomegaly, Inferior... ORPHA:444072
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Microcephaly OMIM:617660
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Arrhinencephaly, Asplenia, Splenogonadal fusion, Absent gal... OMIM:156810
Grfoma
Hepatomegaly, Pheochromocytoma, Neoplasm of the pancreas, Cholelithiasis, Increased circulating g... ORPHA:97261
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Hypoplastic nipples, Cholelithiasis, Abnormal corpus callosum morphology, Splenomeg... OMIM:618268
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Cholelithiasis, Male hypogonadism, Premat... OMIM:240300
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Periventricular leukomal... ORPHA:512
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Partial agenesis of the corpus callosum, Patent ductus arteriosus... OMIM:619480
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Pulmonary arterial hypertension, Cholelithiasis, Cavum septum pellucidum... ORPHA:464738
Lathosterolosis
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Myelomeningocele, Elevated h... OMIM:607330
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Aplasia/Hypoplasia of the gallbladder, Cerebellar hypoplasia, Cryptorc... ORPHA:96092
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Azoospermia, Pulmonary arterial hypertension, Anemia... ORPHA:2072
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Decreased testicular size, Cholelithiasis, Microcephaly OMIM:300534
Bohring-Opitz Syndrome
Dandy-Walker malformation, Annular pancreas, Cholelithiasis, Bradycardia, Ventriculomegaly, Hypop... ORPHA:97297
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal pons morphology, Abnormal cerebral morphology, Abnormal ca... ORPHA:79139
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Microcephaly ORPHA:96097
Steinert Myotonic Dystrophy
Testicular atrophy, Dilated cardiomyopathy, Prolonged QRS complex, Atrial fibrillation, Cardiac c... ORPHA:273
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Decreased liver fun... ORPHA:77293
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Neural tube defect, ... ORPHA:93924
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal globus pallidus morphology, Cholelithiasis, Abnormal dentate nucleus... ORPHA:909
Trisomy 8P
Dandy-Walker malformation, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Hydrocephalus... ORPHA:264450
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Asplenia, Patent ductus arteriosus, Pulmonic stenosis, Biliary atresia,... OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Umbilical hernia OMIM:301066
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Patent ductus arteriosus, Anterior ... ORPHA:2255
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... ORPHA:314621
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Hypoparathyroidism, Occipital myelomeningocele, Hypoplasia of the t... ORPHA:567
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Biliary tract obstruction, Megaloblastic anemia, Exocrine pancreatic insufficiency, ... OMIM:219721
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Neurofibroma
Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology ORPHA:252183
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Umbilical hernia, Neural tube defect ORPHA:798
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Central diabetes insipidus, Gonadotropin deficiency, Adrenocorticot... ORPHA:293987
Peters-Plus Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Pulmonic stenosis, Hydro... OMIM:261540
Williams Syndrome
Cerebral ischemia, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopathy, Hyper... ORPHA:904
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Patent ductus arteriosus, Parathyroid hypoplasia, Umbilical... OMIM:188400

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 Dennd1a

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 Dennd1a.

No publications found that use IMPC mice or data for Dennd1a.

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MGI Allele Allele Type Produced
Dennd1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dennd1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dennd1aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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