Gene Summary

Name:
clustered mitochondria (cluA/CLU1) homolog
Synonyms:
1300001I01Rik

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
abnormal seminal vesicle morphology Cluhem1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Cluhem1(IMPC)Ccpcz HET Early adult 5.37×10-07
preweaning lethality, complete penetrance Cluhem1(IMPC)Ccpcz HOM   Early adult 0.00
increased Ly6C-positive mature NK cell number Cluhem1(IMPC)Ccpcz HET Early adult 1.14×10-05
abnormal coat appearance Cluhem1(IMPC)Ccpcz HET Early adult 1.35×10-07
enlarged seminal vesicle Cluhem1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Cluhem1(IMPC)Ccpcz HOM E18.5 0.00
abnormal vertebral arch morphology Cluhem1(IMPC)Ccpcz HET   Early adult 5.14×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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 Forepaw

15 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Death in infancy, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, ... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Intrauterine growth retardation... OMIM:617156
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity, Diabetes mellitus OMIM:229300
Combined Oxidative Phosphorylation Deficiency 46
Decreased liver function, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:618952
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increased hepatic glycogen content, Ele... OMIM:232700
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
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
Barth Syndrome
Failure to thrive, Abnormal mitochondrial morphology OMIM:302060
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Failure to thrive OMIM:251110
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... OMIM:618839
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Failure to thrive OMIM:251100
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia OMIM:306000
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity OMIM:277410
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Decreased activity of mitochondr... OMIM:245400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... OMIM:277400
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:601992
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Death in infancy, Decreased activity of mitochondrial... OMIM:619064
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion ORPHA:91130
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Recurrent hypo... OMIM:212140
Friedreich Ataxia And Congenital Glaucoma
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity OMIM:229310
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activit... OMIM:302900
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Mitochondrial hypertrophy, Decreased activity of ... OMIM:500013
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic ... ORPHA:79301
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hypoglycemia, Failure to thrive, Hepatic failure, Elevated hepatic transaminase, De... ORPHA:2394
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Cirrhosis, Elevated circulating alkal... OMIM:613812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... OMIM:251880
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial ... ORPHA:2089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Intrauterine growth retardation, Decreased 3-hydroxyacyl-CoA dehydrogen... ORPHA:71212
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Mitochondrial hypertrophy OMIM:619518
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Failure to thrive, Elevated gamma-glutamyltransferase level, Elevated c... OMIM:619484
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... ORPHA:228305
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Abnormal mitochondrial shape, Hypoglycemia, Decreased activity of mitochondrial com... ORPHA:17
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase... ORPHA:298
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Elevated circulating alkaline phosphatase concentration, Hepatic... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Failure to thrive, Cirrhosis, Elevated circulating aspartate amin... OMIM:617049
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Cholestatic liver disease,... ORPHA:65682
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number ORPHA:352447
Reticular Dysgenesis
Failure to thrive, Weight loss, Abnormality of mitochondrial metabolism ORPHA:33355
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Acute hepatic failure, Increased circulating lactate dehydr... ORPHA:99901
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Increa... ORPHA:94086
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Intrahepatic biliary dysgenesis... OMIM:214110
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Decre... OMIM:619055
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Cirrhosis, Hepatic failure... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... OMIM:616278
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice OMIM:616483
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Type I diabetes mellitus ORPHA:1192
Sialuria
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... ORPHA:3166
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Abnormality of mitochondrial metabolism OMIM:615330
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Hsd10 Disease, Infantile Type
Hypoglycemia, Abnormality of mitochondrial metabolism, Abnormal enzyme/coenzyme activity ORPHA:391428
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Elevated gamma-glutamy... ORPHA:567983
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Budd-Chiari Syndrome
Hepatomegaly, Weight loss, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevated hepatic tran... ORPHA:131
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Abnormality of mitochondrial metabolism ORPHA:88639
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Glucose intolerance, Abnormality of the liver, Diabetes mellitus, Elevated hep... ORPHA:254892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Intrauterine growth retardation, Small for gestational age, Umbilical hernia, Failure to thrive, ... OMIM:614052
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Myhre Syndrome
Fine hair, Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Thick eyebrow, Cryptorch... OMIM:139210
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... ORPHA:79124
Manganese Poisoning
Abnormality of mitochondrial metabolism ORPHA:306682
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Osteogenesis Imperfecta
Biconcave vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, Enlarged vertebral p... ORPHA:666
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormality of mitochondrial metabolism ORPHA:314404

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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