Gene Summary

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

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
embryonic lethality prior to organogenesis Ddx6em1(IMPC)Mbp HOM   E9.5 0.00
increased mean corpuscular hemoglobin Ddx6em1(IMPC)Mbp HET Early adult 8.68×10-07
decreased startle reflex Ddx6em1(IMPC)Mbp HET   Early adult 6.59×10-05
abnormal kidney morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Ddx6em1(IMPC)Mbp HET E9.5 0.00
abnormal skin morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ddx6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning Ddx6em1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Ddx6em1(IMPC)Mbp HET Early adult 0.00
increased mean corpuscular volume Ddx6em1(IMPC)Mbp HET Early adult 5.86×10-07
prenatal lethality prior to heart atrial septation Ddx6em1(IMPC)Mbp HOM   E15.5 0.00
increased circulating total protein level Ddx6em1(IMPC)Mbp HET Early adult 4.99×10-05

Download data as:  TSV  XLS

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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 Dorso Ventral

42 Images

Histopathology

Images

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Gross Morphology Embryo E9.5

Images

2 Images

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
Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux 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, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic ane... OMIM:617021
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Multiple Myeloma
Acute kidney injury, Anemia, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hyperproteinemia, E... ORPHA:29073
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M... OMIM:277410
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... ORPHA:2169
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... ORPHA:398063
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cho... ORPHA:231222
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... ORPHA:247585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat... OMIM:611590
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina... OMIM:603553
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... ORPHA:300298
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Nephrotic syndrome, Microscop... OMIM:619155
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Proteinuria... OMIM:256300
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Cellular urinary casts, Thrombocytopenia, Elevated s... ORPHA:509
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, V... OMIM:615895
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne... OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Hepatic necrosis, Leukopen... OMIM:127550
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoprot... ORPHA:90362
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
Johanson-Blizzard Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Exocrine pancreatic in... ORPHA:2315
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Jaundice, Decreased me... ORPHA:231226
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, J... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypoproteinemia, Elevated circulating hepatic transaminase concentration, Tremor OMIM:608093
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased pro... ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Splenom... OMIM:235255
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Hepatos... ORPHA:1655
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy... ORPHA:26793
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ... OMIM:619991
Castleman Disease
Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Ureteral obst... ORPHA:160
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Micropenis, Macrocytic anemia, Neutropenia OMIM:620501
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Hypospadias ORPHA:98791
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic ki... OMIM:609049
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco... OMIM:268800
Juvenile Polyposis Syndrome
Hepatic arteriovenous malformation, Anemia, Neoplasm of the pancreas, Hypoproteinemia, Extrahepat... ORPHA:2929
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Tremor, Exaggerated startle response OMIM:620327
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Exaggerated startle response, Hypernatremia, Dystonia, Thrombocytopenia... OMIM:620423
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... ORPHA:99867
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response OMIM:608800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Anemia, Abnormal hemoglobin, Hypoplasia of penis ORPHA:847
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response, Lacticaciduria OMIM:620451
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Hepatosplenomegaly, Urinary glycosaminoglycan e... ORPHA:79255
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Alkaptonuria
Black pigment gallstones, Nephrolithiasis, Dark urine, Elevated urinary homogentisic acid, Aminoa... ORPHA:56
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Hydronephrosis, Dys... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag... OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux 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 hyperplasia Ddx6em1(IMPC)Mbp HET Early adult
Stomach - MPATH pathological process term dysplasia Ddx6em1(IMPC)Mbp HET Early adult
Stomach - MPATH pathological process term inflammation 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

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
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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