Gene Summary

Name:
clustered mitochondria homolog
Synonyms:
1300001I01Rik

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
dilated heart left ventricle Cluhem1(IMPC)Ccpcz HET Early adult 6.57×10-05
no spontaneous movement Cluhem1(IMPC)Ccpcz HOM E18.5 0.00
abnormal coat appearance Cluhem1(IMPC)Ccpcz HET Early adult 5.47×10-08
increased Ly6C-positive mature NK cell number Cluhem1(IMPC)Ccpcz HET Early adult 1.14×10-05
abnormal vertebral arch morphology Cluhem1(IMPC)Ccpcz HET   Early adult 5.92×10-05
abnormal seminal vesicle morphology Cluhem1(IMPC)Ccpcz HET Early adult 0.00
enlarged seminal vesicle Cluhem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Cluhem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal skin morphology Cluhem1(IMPC)Ccpcz HET Early adult 6.47×10-06

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 Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Human diseases caused by Cluh 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 Cluh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Decreased activity of mitochondrial ATP synthase complex, Small fo... OMIM:610498
Fumarase Deficiency
Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepatic failu... OMIM:606812
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increase... OMIM:232700
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Slender build ORPHA:352470
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Mitochondrial Complex I Deficiency, Nuclear Type 30
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Neonatal death OMIM:301021
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251110
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activit... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Decreased activity of mitochondrial complex IV, Decreased activit... OMIM:618839
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Decreased activity of mitochondrial complex IV, Decreased activity of mitochond... OMIM:617184
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, De... OMIM:245400
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Hepatomegaly, Failure to thrive, Hepatic failure ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Failure to thrive, Decreased methylmalonyl-CoA mutase act... OMIM:277400
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Elevated gamma-glutamyltransferase... OMIM:614480
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Failure to thrive in infancy, Decr... OMIM:619064
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... OMIM:615578
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... OMIM:611126
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion ORPHA:91130
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail... ORPHA:2089
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... OMIM:619484
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive OMIM:619518
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... ORPHA:17
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz... ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ja... OMIM:617049
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Decreased activity of mitocho... OMIM:615453
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling OMIM:618250
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Microvesicu... OMIM:613070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Hepatomegaly, Elevated ci... OMIM:214950
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Decreased circulat... ORPHA:99901
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Hepatomegaly, Intrahepati... OMIM:607765
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... ORPHA:94086
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Bile duct proliferation, Fasting hypog... OMIM:613027
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus ORPHA:263297
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... ORPHA:30391
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... OMIM:617156
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Myhre Syndrome
Vertebral fusion, Atrial septal defect, Ventricular septal defect, Short neck, Pericardial effusi... OMIM:139210
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... ORPHA:666

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 Cluh

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 Cluh.

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

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