Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C13
Synonyms:
Rme8,  LOC382100,  D030002L11Rik

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
decreased mean corpuscular volume Dnajc13em1(IMPC)J HET Early adult 3.00×10-05
preweaning lethality, complete penetrance Dnajc13em1(IMPC)J HOM   Early adult 0.00
increased circulating bilirubin level Dnajc13em1(IMPC)J HET Early adult 4.60×10-06
decreased mean corpuscular hemoglobin Dnajc13em1(IMPC)J HET   Early adult 1.92×10-05

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

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Dnajc13 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 Dnajc13 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Late-Onset Parkinson Disease
ORPHA:411602

The table below shows human diseases predicted to be associated to Dnajc13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:616649
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elliptocytosis... OMIM:109270
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Spherocytosis, Type 1
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:182900
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Reticulocyt... OMIM:235700
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Hereditary Elliptocytosis
Reticulocytosis, Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:288
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Splenomegaly, Iron deficiency anemia, Hyperbilirubinemia... OMIM:616278
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Reticulocytosis, Ne... OMIM:618892
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Hemolytic anemia ORPHA:713
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:214900
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spherocytosis, Anemia, Hyperbi... ORPHA:822
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia, Polycy... OMIM:613280
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Infantile Sialic Acid Storage Disease
Splenomegaly, Conjugated hyperbilirubinemia, Vacuolated lymphocytes OMIM:269920
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Extram... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly OMIM:251880
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular volume, Macrocytic ane... ORPHA:2169
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Abetalipoproteinemia
Hypotriglyceridemia, Acanthocytosis, Decreased HDL cholesterol concentration, Anemia, Hyperbiliru... ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Hyperbilirubinemia, Anisopoikilocytosis, Abno... OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis ORPHA:168577
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 h... ORPHA:231222
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... ORPHA:447
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Congenital Erythropoietic Porphyria
Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikilocytosis, ... ORPHA:79277
Caroli Syndrome
Leukopenia, Leukocytosis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypersplenism, Throm... ORPHA:480520
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Increased serum bile acid concentration, Normocytic anemia, Leukemia, I... ORPHA:811
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:163979
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia, Spl... ORPHA:567983
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Caroli Disease
Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Abnormal spleen morp... OMIM:619488
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Splenomegaly OMIM:613610
Isolated Biliary Atresia
Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated circulating c... ORPHA:99829
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Neonatal hyperbilirubinemia ORPHA:163956
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Hardikar Syndrome
Hepatosplenomegaly, Splenomegaly, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia OMIM:301068
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentration, Abnormal T cell... ORPHA:330015
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Hereditary Late-Onset Parkinson Disease
ORPHA:411602

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 Dnajc13

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 Dnajc13.

No publications found that use IMPC mice or data for Dnajc13.

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MGI Allele Allele Type Produced
Dnajc13em1(IMPC)J Exon Deletion Mice

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