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Gene: Chd9 MGI:1924001

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Gene Summary

Name:
chromodomain helicase DNA binding protein 9
Synonyms:
9030205D12Rik,  1810014J18Rik,  A330063D19Rik,  AD013

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Chd9tm1a(EUCOMM)Wtsi HOM Early adult 2.33×10-05
increased circulating alkaline phosphatase level Chd9tm1a(EUCOMM)Wtsi HOM Early adult 1.83×10-05
increased Langerhans cell number Chd9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating amylase level Chd9tm1a(EUCOMM)Wtsi HOM   Early adult 2.30×10-08

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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

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Chd9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 86 images

Chd9tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
abnormal placement of pupils, abnormal pupil morphology, HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Chd9tm1a(EUCOMM)Wtsi
abnormal placement of pupils, abnormal pupil morphology, HOM, Female, WTSI
Chd9tm1a(EUCOMM)Wtsi
abnormal snout morphology, upturned snout, head, HOM, Female, WTSI

Human diseases caused by Chd9 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Chd9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... OMIM:619868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spermatogenic Failure 12
Abnormal male germ cell morphology, Azoospermia OMIM:615413
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Papular Xanthoma
Histiocytosis, Hyperlipidemia ORPHA:158008
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... OMIM:209950
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... ORPHA:247598
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hemochromatosis, Type 5
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... OMIM:615517
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... ORPHA:90362
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... ORPHA:540
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... OMIM:242150
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Wolcott-Rallison Syndrome
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... ORPHA:1667
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Amoebiasis Due To Entamoeba Histolytica
Anemia, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia ORPHA:67
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Juvenile Polyposis Syndrome
Hypokalemia, Anemia, Hypoalbuminemia OMIM:174900
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... OMIM:251880
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulating creatine kinase con... ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia OMIM:617303
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... ORPHA:37042
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Anemia, Hemolytic anemia, Hypoalbuminemia OMIM:619487
Al Amyloidosis
Anemia, Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Abetalipoproteinemia
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... ORPHA:14
Hepatocellular Carcinoma
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytos... ORPHA:88673
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia OMIM:212065
Wilson Disease
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... OMIM:277900
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia ORPHA:79324
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia, Hypochole... ORPHA:90363
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Increased mean platele... OMIM:222470
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia ORPHA:505248
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym... ORPHA:99826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia ORPHA:79076
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia ORPHA:171
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:619381
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia OMIM:270400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Reduced thyroxin-binding globulin, Impaired neutrophil chemotaxis, Hypoalbuminemia ORPHA:79318

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 Chd9

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 Chd9.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Chd9tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Chd9tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Chd9tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Chd9tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Chd9tm1a(EUCOMM)Wtsi