Gene Summary

Name:
collagen, type IX, alpha 3
Synonyms:
N/A

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 body length Col9a3em1(IMPC)Tcp HOM Early adult 9.26×10-05
increased circulating triglyceride level Col9a3em1(IMPC)Tcp HOM Early adult 6.66×10-05
abnormal seminal vesicle morphology Col9a3em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Col9a3em1(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Col9a3em1(IMPC)Tcp HOM Early adult 7.40×10-06
enlarged lymph nodes Col9a3em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Col9a3em1(IMPC)Tcp HOM   Early adult 6.86×10-09

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.

Eye Morphology

Images Ophthalmoscopy

98 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Col9a3 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 Col9a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epiphyseal Dysplasia, Multiple, 3
Elevated circulating creatine kinase concentration, Mildly elevated creatine kinase OMIM:600969
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHA:166002

The table below shows human diseases predicted to be associated to Col9a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hypertrig... OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Low-frequency sensorineural hea... OMIM:613101
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hearing impairment, Hypercholester... OMIM:144300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Increas... OMIM:615703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis ORPHA:75234
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Sensorineural hearing impairment, Hepatomegaly, Elevated circulating creatine ... OMIM:610717
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Posteriorly rotated ears, Hypertriglyceridemia, Decreased t... OMIM:616222
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatosplenomegaly, Leukopenia, Periportal fibrosis, Hypercholesterolemia, Por... OMIM:278000
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Elevated circulatin... ORPHA:158061
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, Hepatic fibrosis ORPHA:280356
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Hypertri... OMIM:613027
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hyper... OMIM:619013
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Azoospermia, Splenomegaly, Hepatome... OMIM:615234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:618495
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Galactosemia Iii
Hypergalactosemia, Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian ins... ORPHA:100025
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Hyperlipoproteinemia, Recurrent pancreatitis, Sp... OMIM:615947
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia, Low-set ears OMIM:307030
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... OMIM:613313
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Cryptorchidism, Sensorineural hearing impairment, Hepatomegaly, Hypertriglycer... OMIM:615381
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Nephrotic Syndrome, Type 14
Cryptorchidism, Sensorineural hearing impairment, Micropenis, Hypertriglyceridemia, Hypoalbuminem... OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... OMIM:603553
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Cirrhosis, N... OMIM:214900
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Sensorineural hearing impairment,... ORPHA:540
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Hepatomegaly, Lymphadenopathy, Media... ORPHA:66661
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated plasma citrulline, Portal inflammation, Hyperargininemia, Hypertrigly... OMIM:603471
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia OMIM:608600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, Hepatic bridging fibrosi... OMIM:619658
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... OMIM:616828
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancre... ORPHA:435651
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Polycystic ovaries, ... ORPHA:528
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypergonadotropic hypogonadism, Hypertriglyc... ORPHA:66628
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreat... ORPHA:2348
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatome... ORPHA:435660
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hyperuricemia, Hypertriglyceri... ORPHA:79083
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... OMIM:182290
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Hypercholesterolemia, Cholestasis, Splenomegaly, Hepatomeg... ORPHA:370
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased proportion of CD4-positive h... ORPHA:179494
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased ... OMIM:604367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Hypercholesterolemia, Cholestasis, Splenomegaly, Hepatomeg... ORPHA:264580
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmu... OMIM:615559
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circulating creati... ORPHA:79240
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Azoospermia, Splenom... OMIM:602390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Hypercholesterolemia, External genital hypoplasia, Hypertriglyceridemia, Ambiguous gen... OMIM:610644
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, H... ORPHA:168569
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Tangier Disease
Hepatosplenomegaly, Left ventricular hypertrophy, Orange discolored tonsils, Chronic noninfectiou... ORPHA:31150
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Sensorineural hearing impairment, Splenomegaly, Elevated circulating C-reactive pro... OMIM:611762
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune hemolytic anemia, Autoimmune thrombocytope... OMIM:618534
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Lcat Deficiency
Hemolytic anemia, Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, De... ORPHA:650
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Splenomegaly, Hepatomegaly,... ORPHA:93476
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatic steatosis, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... ORPHA:158048
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Alstrom Syndrome
Hepatic steatosis, Hypergonadotropic hypogonadism, Hepatomegaly, Hyperuricemia, Progressive senso... OMIM:203800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Optic disc pallor, Reticulocytosis, Facia... OMIM:611490
X-Linked Lymphoproliferative Disease
Pancytopenia, Absent natural killer cells, Histiocytosis, Increased T cell count, Hepatic necrosi... ORPHA:2442
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Optic atrophy OMIM:615085
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Conductive hearing impairment, Precocious puberty, Hypertr... ORPHA:819
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Low-set ears, Cryptorchidism, Ascites, Hypocalcemia, Hypertriglyceridemia, Hypoalbu... OMIM:618183
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged n... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged n... ORPHA:529799
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Abn... ORPHA:848
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymp... OMIM:603554
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating ino... OMIM:613179
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration... OMIM:613327
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Azoospermia, Splenom... OMIM:235200
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Pancreat... ORPHA:280365
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Small earlobe, Sensorineural hearing impairment, Hepatomegaly, Hypertriglyceri... ORPHA:98907
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cinca Syndrome
EEG abnormality, Leukocytosis, Abnormal granulocyte morphology, Sensorineural hearing impairment,... ORPHA:1451
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Acanthocytosis, Jaundice, Increased mean corpuscular hemoglobin conce... OMIM:616689
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Abnormal circulating lipid concentrati... ORPHA:79086
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Mogs-Cdg
Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Sensorineural hearing impairment,... ORPHA:79330
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Optic atrophy, H... ORPHA:79312
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Lysinuric Protein Intolerance
Anemia, Pancreatitis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hy... ORPHA:470
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Persistence of hemogl... OMIM:613673
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hepatic fibrosis, Hyperlipidemia, Hepatomegaly OMIM:232400
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Cirrhosis, Hep... ORPHA:369
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Splenomegaly, Labial hypertrophy, Hepa... OMIM:608594
Fanconi-Bickel Syndrome
Increased hepatic glycogen content, Hepatomegaly, Hypertriglyceridemia, Hepatocellular carcinoma,... ORPHA:2088
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hyper... ORPHA:275761
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Sensorineural hearing impai... ORPHA:3226
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:182900
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Splenomegaly, Labial hypertrophy, Hepa... OMIM:269700
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Macroc... OMIM:619046
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hyperbiliru... OMIM:607765
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Absent brainstem auditory res... ORPHA:3240
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Polycystic ovaries, Hypercholesterolemia, Hepatomegaly, La... OMIM:151660
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hyperlipidemia, Abnormal circulating lipid concentration, Autoimmune thrombocytop... ORPHA:77293
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Portal hypertension, Cryptorchidism, Sensorineural hearing impairment, Agangl... OMIM:609136
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:612653
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hypercalcemia, EEG with spike-wave complexes, Precocious puberty, Hypoparathyroidis... ORPHA:369837
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:85414
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Cockayne Syndrome Type 1
Cryptorchidism, Increased blood urea nitrogen, Hepatomegaly, Anemia, Male hypogonadism, Macrotia,... ORPHA:90321
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Portal hypertension, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... OMIM:210250
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:616649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hypercholesterolemia, Chr... ORPHA:79259
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrho... OMIM:613812
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea OMIM:235555
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Steatorrhea ORPHA:75233
Tangier Disease
Facial diplegia, Splenomegaly, Hepatomegaly, Left ventricular hypertrophy, Decreased HDL choleste... OMIM:205400
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... OMIM:601847
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypogonadotropic hypogonadism, Hypertriglycer... ORPHA:261476
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Conj... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Parotitis, Splenomegaly, Elevated circulating C-reactive protein concentration... OMIM:256040
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hyperlipidemia, Portal hypertension, Splenomegaly, Conjugated ... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatocellular necrosi... OMIM:251880
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic steatosis, Cholestasis, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio... OMIM:619573
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hep... OMIM:615980
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Low-set ears, Cryptorchidism, Micropenis, Hypocalcemia, Vagi... ORPHA:1655
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Low-set ears, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Mi... OMIM:606003
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Cockayne Syndrome A
Cryptorchidism, Micropenis, Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Decreas... OMIM:216400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Low-set ears, Cryptorchidism, Micropenis, Hypocalcemia, Pancreatic lymphangiecta... OMIM:235255
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hyperbiliru... ORPHA:288
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Agammaglobulinemia, X-Linked
T lymphocytopenia, Prostatitis, Neutropenia, Anemia, Epididymitis, B lymphocytopenia, Hepatocellu... OMIM:300755
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Cholecystitis, Inc... ORPHA:90041
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elli... OMIM:109270
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Sensorineural hearing impairment, Hepatomegaly, Ch... ORPHA:98908
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Facial palsy, Facial paralysis, T... OMIM:259700
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Macrotia, Hypertriglyceridemia ORPHA:536532
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Cockayne Syndrome B
Cryptorchidism, Micropenis, Sensorineural hearing impairment, Splenomegaly, Hepatomegaly, Decreas... OMIM:133540
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Oculoskeletodental Syndrome
Hypercalcemia, Cryptorchidism, Hypocalcemia, Splenomegaly, Hepatomegaly, Hearing impairment OMIM:618440
Seckel Syndrome 10
Hepatic steatosis, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated h... OMIM:617253
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Scheie Syndrome
Sensorineural hearing impairment, Abnormal nerve conduction velocity, Splenomegaly, Hepatomegaly ORPHA:93474
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia, Low-set ears, Cryptorchidism, Conductive hearing impairment, S... ORPHA:254346
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Trisomy 10P
Rectovaginal fistula, Absent gallbladder, Low-set ears, EEG with burst suppression, Abnormal audi... ORPHA:171929
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Decreased ne... OMIM:214500
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials,... ORPHA:401973
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Sensorineural ... OMIM:602782
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve... ORPHA:909
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Accessory sp... OMIM:300972
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Cholestasis, Hypercholesterolemia, Reduced number of intrahepa... OMIM:118450
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Abnormal circula... OMIM:607625
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepato... OMIM:263200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Low-set ears, Pancreatic cysts, Cholestasis, Sensorineural hearing impairmen... OMIM:610199
Isolated Biliary Atresia
Cholestasis, Periportal fibrosis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Wiedemann-Rautenstrauch Syndrome
Absent earlobe, Low-set ears, Cryptorchidism, Long penis, Aplasia/Hypoplasia of the earlobes, Hyp... OMIM:264090
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Primary hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Calcinosis, Hypop... OMIM:239200
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hea... OMIM:232300
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Hepatomegaly, Elevated hemoglobin A1c, Hypertriglyceridemia, Le... OMIM:619127
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Sensorineural hearing impairment, Hypo... OMIM:241080
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Sensorineural hearing impairment, Splenomegaly, Hepatomeg... ORPHA:565612
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Leukocytosis, Neutrophilia, Splenomegaly, Optic disc pallor, L... OMIM:260920
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycyst... ORPHA:91
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Atypical Werner Syndrome
Hepatic steatosis, Ovarian neoplasm, Hypertriglyceridemia, Abnormal testis morphology, Premature ... ORPHA:79474
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Lipodystrophy, Familial Partial, Type 7
Tinnitus, Orthostatic hypotension, Recurrent pancreatitis, Low-set ears, Hypercholesterolemia, Hy... OMIM:606721
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcar... ORPHA:228308
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Macronodular adrenal hyperplasia, Primary hyperparathyroidism,... ORPHA:189427
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233690
Familial Mediterranean Fever
Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Elevated circulating C-reactive ... OMIM:249100
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Absent earlobe, Hepatic steatosis, Low-set ears, Optic atrophy, Cr... ORPHA:3455
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Hypophosphatemic rickets, Splenomegaly, Hypermethion... OMIM:276700
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Testicular neoplasm, Paradoxical increased cortisol secretion ... ORPHA:189439
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Ascites, Hypersplenism, Thrombocytopenia, Increased ser... ORPHA:731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperlipidemia, Micropenis, Abnormal spermatogenesis, Bilateral sensori... ORPHA:3464
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Elevated circula... ORPHA:50918
Lymphatic Malformation 6
Intestinal lymphangiectasia, Cupped ear, Splenomegaly, Ascites, Hydrocele testis, Hearing impairment OMIM:616843
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Neutropenia, Pancreati... OMIM:232220
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Alström Syndrome
Hyoplasia of the Leydig cells, Severe sensorineural hearing impairment, Oligospermia, Abnormal li... ORPHA:64
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Pancreatitis, Hepatoce... OMIM:232200
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Lymphadenopat... ORPHA:29073
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver absces... OMIM:306400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Ascites ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hearing impairment, Hyperlipidemia ORPHA:90153
Glycogen Storage Disease Ic
Hepatoblastoma, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Chronic pancreatitis, H... OMIM:232240
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Cholesteatoma, Elevated c... OMIM:619381
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia, Optic neuropathy, Increased LDL choleste... ORPHA:391665
Epiphyseal Dysplasia, Multiple, 3
Elevated circulating creatine kinase concentration, Mildly elevated creatine kinase OMIM:600969
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHA:166002

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
Skeletal muscle - MPATH pathological process term dystrophy Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Bone - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Tibia - MPATH pathological process term developmental dysplasia Col9a3em1(IMPC)Tcp HOM Early adult
Tibia - MPATH pathological process term dysplasia Col9a3em1(IMPC)Tcp HOM 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 Col9a3.

No publications found that use IMPC mice or data for Col9a3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Col9a3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Col9a3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col9a3em1(IMPC)Tcp Exon Deletion Mice
Col9a3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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