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Gene: Ddx6 MGI:104976

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Gene Summary

Name:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 6
Synonyms:
p54,  mRCK/P54,  1110001P04Rik,  E230023J21Rik,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 6,  rck,  HLR2,  C430015D01Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Ddx6em1(IMPC)Mbp HET E9.5 0.00
embryonic lethality prior to organogenesis Ddx6em1(IMPC)Mbp HOM   E9.5 0.00
prenatal lethality prior to heart atrial septation Ddx6em1(IMPC)Mbp HOM   E15.5 0.00
abnormal skin morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
increased circulating total protein level Ddx6em1(IMPC)Mbp HET Early adult 4.99×10-05
abnormal kidney morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
increased mean corpuscular hemoglobin Ddx6em1(IMPC)Mbp HET Early adult 5.40×10-07
abnormal embryo turning Ddx6em1(IMPC)Mbp HOM E9.5 0.00
decreased startle reflex Ddx6em1(IMPC)Mbp HET Early adult 7.13×10-05
increased mean corpuscular volume Ddx6em1(IMPC)Mbp HET Early adult 1.08×10-06
abnormal liver morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ddx6em1(IMPC)Mbp HOM   Early adult 0.00

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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

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Histopathology

Images

5 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Ddx6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ddx6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653

The table below shows human diseases predicted to be associated to Ddx6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... OMIM:616689
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ele... ORPHA:158048
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... ORPHA:98870
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... ORPHA:90041
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Multiple Myeloma
Anemia, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypercalcemia, Elevated circulating... ORPHA:29073
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Panc... ORPHA:2169
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of iron homeostasis, Decreased liver... ORPHA:231222
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... ORPHA:398063
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... OMIM:611590
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Citrullinemia Type Ii
Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Elevated hepatic transaminase, ... ORPHA:247585
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... OMIM:603553
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... ORPHA:300298
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:613673
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Elliptocytosis 3
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... OMIM:617948
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular scler... OMIM:619155
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diffuse mesangial sclerosis... OMIM:256300
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... ORPHA:811
Leptospirosis
Acute kidney injury, Hepatitis, Jaundice, Cellular urinary casts, Thrombocytopenia, Hepatomegaly,... ORPHA:509
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... OMIM:241600
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Increased mean corpuscular volume, ... OMIM:127550
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Anemia, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulat... OMIM:615895
Immunodeficiency 96
Increased mean corpuscular volume, Multicystic kidney dysplasia, Increased proportion of gamma-de... OMIM:619774
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Horseshoe kidney, Macrocytic anemia, Increased mean corpuscular volume, Ne... OMIM:612562
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... ORPHA:848
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hyp... ORPHA:90362
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Johanson-Blizzard Syndrome
Anemia, Abnormality of the pancreas, Hypoplasia of penis, Hypospadias, Hypoproteinemia, Exocrine ... ORPHA:2315
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia, Hepatomegaly ORPHA:99828
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypoproteinemia, Elevated hepatic transaminase, Tremor OMIM:608093
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Chédiak-Higashi Syndrome
Splenomegaly, Anemia, Neutropenia, Decreased liver function, Jaundice, Elevated hepatic transamin... ORPHA:167
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hepatic failure, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatomegaly, Hypoca... OMIM:235255
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos... OMIM:618278
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hypoproteinemia, Micropenis, He... ORPHA:1655
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Jaundice, Elevated hepatic transaminase, Elevated ci... ORPHA:26793
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Liver Disease, Severe Congenital
Aminoaciduria, Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fet... OMIM:619991
Castleman Disease
Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Hematuria, Decreased mean corpuscula... ORPHA:160
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Eisenmenger Syndrome
Hyperuricemia, Abnormality of the liver, Hypochromic microcytic anemia, Abnormal B-type natriuret... ORPHA:97214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Elevated hepatic transaminase, Pancytopenia, Persistence of hemog... OMIM:260400
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,... OMIM:609049
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Lead Poisoning
Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis... ORPHA:330015
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Sandhoff Disease
Urinary incontinence, Exaggerated startle response, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Juvenile Polyposis Syndrome
Anemia, Hepatic arteriovenous malformation, Neoplasm of the pancreas, Extrahepatic portal hyperte... ORPHA:2929
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Thymoma
Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell apl... ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La... ORPHA:845
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Hypoplasia of penis, Hydronephrosis ORPHA:847
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft OMIM:608800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Hypospadias, M... OMIM:301040
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Increased urinary galactosylated oligosaccharid... ORPHA:79255
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Anemia, Exaggerated startle response, Decreased serum iron, Dystonia, Neph... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Exaggerated startle response, Urethral stricture, Hypospadias, Grade III ve... OMIM:619522
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653

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.

Phenotype Allele Zygosity Sex Life Stage
Stomach - MPATH pathological process term inflammation Ddx6em1(IMPC)Mbp HET Early adult
Stomach - MPATH pathological process term hyperplasia Ddx6em1(IMPC)Mbp HET Early adult
Stomach - MPATH pathological process term dysplasia Ddx6em1(IMPC)Mbp HET Early adult

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 Ddx6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse superkiller-2-like helicase DDX60 is dispensable for type I IFN induction and immunity to multiple viruses. European journal of immunology (October 2015) Ddx60tm1a(EUCOMM)Wtsi Ddx60tm1d(EUCOMM)Wtsi PMC4833184
DDX60 Is Involved in RIG-I-Dependent and Independent Antiviral Responses, and Its Function Is Attenuated by Virus-Induced EGFR Activation. Cell reports (May 2015) Ddx60tm1a(EUCOMM)Wtsi Ddx60tm1b(EUCOMM)Wtsi 25981042

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MGI Allele Allele Type Produced
Ddx6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ddx6em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ddx6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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