Gene Summary

Name:
DENN domain containing 1A
Synonyms:
6030446I19Rik

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
abnormal neural tube morphology Dennd1aem1(IMPC)Mbp HET E9.5 0.00
prenatal lethality prior to heart atrial septation Dennd1aem1(IMPC)Mbp HOM   E15.5 0.00
abnormal neural tube morphology Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
decreased thigmotaxis Dennd1aem1(IMPC)Mbp HET   Early adult 5.22×10-05
abnormal hindbrain development Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Dennd1aem1(IMPC)Mbp HOM 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
embryonic growth retardation Dennd1aem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Dennd1aem1(IMPC)Mbp HET E9.5 0.00
abnormal embryo turning Dennd1aem1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

MicroCT E9.5

Embryo reconstruction

32 Images

Gross Morphology Embryo E9.5

Images

31 Images

X-ray

XRay Images Whole Body Dorso Ventral

56 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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 Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Bi... OMIM:610688
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... OMIM:607361
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Dandy-Walker malformation, Cholestasis, Biliary... OMIM:208540
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Meckel Syndrome, Type 7
Dandy-Walker malformation, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct prolife... OMIM:267010
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Coach Syndrome 2
Molar tooth sign on MRI, Portal fibrosis, Elevated circulating hepatic transaminase concentration... OMIM:619111
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr... ORPHA:79301
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Dandy-Walker malformation, Abnormal biliary tract morpholog... ORPHA:3032
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Cystic liver diseas... OMIM:612284
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida ORPHA:2476
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Bile duct proliferation OMIM:603194
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polymicrogyria, Cholestasi... OMIM:261515
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Bile duct proliferation OMIM:611561
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Jaundice, Cholangitis, Periportal fibrosis, Hypertension, Cholestasi... ORPHA:731
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... ORPHA:231222
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Molar tooth sign on MRI, Cerebellar hypoplasia, Anenceph... OMIM:249000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis ORPHA:79278
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fib... OMIM:208500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Prolonged... OMIM:619534
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... OMIM:619525
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Coach Syndrome 1
Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:216360
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk... OMIM:619991
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Ethmoidal encephalocele, Rhombencephalosynapsis, Abnormal midbrain morp... ORPHA:280195
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane... OMIM:613658
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... OMIM:605479
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, First degree atrioventricular ... OMIM:160900
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Cimdag Syndrome
Pontocerebellar atrophy, Hepatomegaly, Cholelithiasis, Cerebellar vermis hypoplasia, Microvesicul... OMIM:619273
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Elevated circulating aldolase concentration, Reduced muscle 6-phosphofr... OMIM:232800
Sickle Cell Anemia
Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac... ORPHA:100085
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... ORPHA:171
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hydrocephalus, Patent du... OMIM:614886
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Peritoneal abscess, Hypoplasia of the thymus, Abnormal ductus choled... ORPHA:436252
Arima Syndrome
Cirrhosis, Hepatomegaly, Anemia, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypoplasi... OMIM:243910
Slc35A2-Cdg
Elevated circulating hepatic transaminase concentration, Dandy-Walker malformation, Atrophy/Degen... ORPHA:356961
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, ... OMIM:615512
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Hypertrophic card... OMIM:618775
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Adult Krabbe Disease
Erectile dysfunction, Abnormal circulating enzyme concentration or activity, Abnormal midbrain mo... ORPHA:206448
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Hypertrophic cardiomyopathy, Cholelithiasis, Severely reduced left vent... OMIM:620646
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Arrhythmia ORPHA:171876
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Elevated circulating alkaline phospha... ORPHA:186
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holoprosen... ORPHA:63259
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal cortical gyration, Cerebellar hypoplasia, Cyst of the ductus choledochus, Dandy-Walker m... ORPHA:480880
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Cerebrotendinous Xanthomatosis
Cholelithiasis, Angina pectoris, Abnormal dentate nucleus morphology, Cerebellar atrophy, Myocard... OMIM:213700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Fe... OMIM:240300
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Ppoma
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch... ORPHA:97278
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Patent ductus arteriosus, Cholelithiasis, Hypoplastic nip... OMIM:618268
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole... ORPHA:774
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Cere... ORPHA:444072
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Ch... ORPHA:97261
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab... ORPHA:512
8P Inverted Duplication/Deletion Syndrome
Dandy-Walker malformation, Cryptorchidism, Cerebellar hypoplasia, Aplasia/Hypoplasia of the gallb... ORPHA:96092
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida OMIM:619480
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis OMIM:300534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Azoospermia, Spontaneous, recurrent epistaxi... ORPHA:2072
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Increased red blood cell count, Myocardial necrosis, Abn... ORPHA:68
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Dilated third ventricle, Cholelithiasis, Lateral ventricle dilat... ORPHA:464738
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ... ORPHA:77293
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Splenic infarction,... ORPHA:355
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... OMIM:263700
Steinert Myotonic Dystrophy
Decreased fertility, Decreased response to growth hormone stimulation test, Left ventricular syst... ORPHA:273
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cerebrotendinous Xanthomatosis
Abnormal cerebellar peduncle morphology, Cholelithiasis, Abnormal circulating enzyme concentratio... ORPHA:909
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Bradycardia, Dandy-Walker malformation, Ventriculomegaly ORPHA:97297
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93924
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Umbilical hernia, Cholecystitis OMIM:301066
Trisomy 8P
Annular pancreas, Hydrocephalus, Dandy-Walker malformation, Heart murmur, Cryptorchidism, Aplasia... ORPHA:264450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Patent ductus arteriosus, Pancreatic hypoplasia, Pa... ORPHA:2255
Japanese Encephalitis
Abnormal midbrain morphology, Neutrophilia, Abnormal substantia nigra morphology, Abnormal pons m... ORPHA:79139
Neurofibroma
Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland ORPHA:252183
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypoparathyroidism, Patent ductus arteri... ORPHA:567
Schinzel-Giedion Syndrome
Abnormal heart morphology, Neural tube defect, Umbilical hernia ORPHA:798
Duplication Of The Pituitary Gland
Abnormal pituitary gland morphology, Encephalocele, Abnormal midbrain morphology ORPHA:314621
Williams Syndrome
Congestive heart failure, Patent ductus arteriosus, Spina bifida occulta, Cholelithiasis, Suprava... ORPHA:904
Digeorge Syndrome
Anemia, Patent ductus arteriosus, Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasi... OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:293987

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
Dennd1aem1(IMPC)Mbp Exon Deletion Mice, Tissue
Dennd1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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