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Gene: Car5a MGI:101946

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
carbonic anhydrase 5a, mitochondrial
Synonyms:
Car5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Car5a 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 Car5a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751

The table below shows human diseases predicted to be associated to Car5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Patent Ductus Venosus
Hyperammonemia, Hypergalactosemia OMIM:601466
Hyperlysinuria With Hyperammonemia
Hyperammonemia, Hyperlysinemia OMIM:238750
Argininemia
Hyperammonemia ORPHA:90
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia OMIM:606762
Saccharopinuria
Elevated plasma citrulline, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal circulating... ORPHA:3124
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Propionic Acidemia
Hyperammonemia ORPHA:35
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Ornithine Transcarbamylase Deficiency
Hyperammonemia ORPHA:664
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia ORPHA:35878
Mitochondrial Dna Depletion Syndrome 17
Hyperammonemia, Low plasma citrulline OMIM:618567
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia ORPHA:28
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618416
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininemia OMIM:237300
Developmental And Epileptic Encephalopathy 82
Hyperammonemia OMIM:618721
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia OMIM:620137
Pyruvate Dehydrogenase E3 Deficiency
Hyperammonemia, Elevated circulating branched chain amino acid concentration, Hyperisoleucinemia,... ORPHA:2394
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia ORPHA:927
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyperglutaminemia OMIM:237310
Argininosuccinic Aciduria
Hyperammonemia, Hyperglutaminemia, Hypoargininemia ORPHA:23
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperammonemia, Hyperalaninemia OMIM:614739
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Hyperalaninemia OMIM:614702
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia ORPHA:289916
Citrullinemia Type I
Hyperammonemia, Elevated plasma citrulline ORPHA:247525
Cutis Laxa, Autosomal Recessive, Type Iiia
Hyperammonemia, Hypoornithinemia, Low plasma citrulline, Hypoprolinemia, Hypoargininemia OMIM:219150
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperammonemia, Hyperalaninemia OMIM:619051
Infantile Liver Failure Syndrome 2
Hyperammonemia OMIM:616483
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoglutaminemia OMIM:610015
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia OMIM:238970
Carnitine Deficiency, Systemic Primary
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased circulating carniti... OMIM:212140
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia OMIM:613661
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentration ORPHA:42
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyper... OMIM:620358
Isolated Atp Synthase Deficiency
Hyperammonemia, Hyperalaninemia ORPHA:254913
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia ORPHA:27
Combined Oxidative Phosphorylation Deficiency 4
Hyperammonemia OMIM:610678
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia OMIM:618253
Propionic Acidemia
Hyperammonemia, Hyperglycinemia OMIM:606054
Citrullinemia, Classic
Elevated plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hyperglutaminemia, Hyp... OMIM:215700
Hsd10 Disease, Infantile Type
Hyperammonemia ORPHA:391428
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hyperammonemia ORPHA:1194
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased circulating carniti... OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperammonemia, Acute hyperammonemia, Hyperleucinemia, Decreased circulating carnitine concentration OMIM:210210
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Transient hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:255120
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hyperammonemia, Elevated circulating creatine kina... OMIM:620300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Methylmalonic acidemia, Hyperglycinemia OMIM:251000
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hyperglutaminemia, Elevated... OMIM:311250
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Hyperammonemia... OMIM:251110
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Hyperammonemia, Elevated circulating acylcarnitine conce... ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ... ORPHA:71212
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Hyperammonemia, Elevated circulating acylcarnitine conce... ORPHA:159
Mitochondrial Trifunctional Protein Deficiency 1
Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarn... OMIM:609015
Long-Olsen-Distelmaier Syndrome
Hyperammonemia OMIM:620609
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarn... ORPHA:26791
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia OMIM:616672
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Carnitine-Acylcarnitine Translocase Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:212138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Argininosuccinic Aciduria
Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intoxication, Hyper... OMIM:207900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Infantile Liver Failure Syndrome 3
Hyperammonemia OMIM:618641
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperammonemia OMIM:615453
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperammonemia, Decreased circulating carnitine concentration, Hyperuricemia OMIM:246450
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Hyperglycinemia OMIM:251100
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperammonemia, Hyperalaninemia OMIM:615471
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperuricemia ORPHA:134
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia OMIM:210200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarn... ORPHA:480864
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarn... OMIM:616878
Holocarboxylase Synthetase Deficiency
Hyperammonemia OMIM:253270
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia OMIM:607330
Rett Syndrome
Hyperammonemia, Increased serum pyruvate ORPHA:778
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperammonemia, Hyperalaninemia OMIM:614052
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Hyperuricemia ORPHA:20
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Argininemia
Hyperargininemia, Hyperammonemia OMIM:207800
Hyperlysinemia
Hyperammonemia, Hypoornithinemia, Hyperlysinemia ORPHA:2203
Biotinidase Deficiency
Hyperammonemia OMIM:253260
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentrat... ORPHA:79282
Developmental And Epileptic Encephalopathy 50
Hyperammonemia OMIM:616457
Biotinidase Deficiency
Hyperammonemia ORPHA:79241
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Abnormal circulating citrulline concentration ORPHA:415
Interstitial Lung And Liver Disease
Hyperammonemia OMIM:615486
Lysinuric Protein Intolerance
Hyperammonemia, Increased circulating ferritin concentration, Hypolysinemia OMIM:222700
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... OMIM:619991
Acute Liver Failure
Hyperammonemia ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperammonemia OMIM:220111

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 Car5a

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 Car5a.

No publications found that use IMPC mice or data for Car5a.

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MGI Allele Allele Type Produced
Car5atm50620(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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