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Gene: Ndufa1 MGI:1929511

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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:
NADH:ubiquinone oxidoreductase subunit A1
Synonyms:
MWFE,  1810049F12Rik

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 Ndufa1 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 Ndufa1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance OMIM:301020
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy ORPHA:2609

The table below shows human diseases predicted to be associated to Ndufa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Abnormal glycosylation, Decreased circulating cerulo... OMIM:616828
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Abnormal protei... OMIM:616829
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... ORPHA:77296
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Abnormal glycosylation OMIM:615596
Cystinuria
Hyperuricemia, Abnormality of amino acid metabolism ORPHA:214
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1, Hyperinsulinemia, Glucose intolerance, Attention deficit hyperactivity ... ORPHA:369873
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Abnormality of amino acid metabolism, Anorexia ORPHA:394
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism ORPHA:220295
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance, Hypoglycemia OMIM:229500
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Impairment of galactose metabolism, Aminoaciduria ORPHA:79238
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Obesity
Decreased resting energy expenditure OMIM:601665
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Galactose Mutarotase Deficiency
Hepatomegaly, Impairment of galactose metabolism, Cholestasis, Hypergalactosemia, Decreased liver... ORPHA:570422
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Maternally-Inherited Diabetes And Deafness
Aplasia/Hypoplasia of the cerebellum, Abnormal circulating lipid concentration, Ataxia, Type II d... ORPHA:225
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Abnormal glycosylation, Diffuse cerebral atrophy, Decreased circul... OMIM:617395
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Abnormal glycosylation, Increased circulating ... ORPHA:356961
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... OMIM:227810
Essential Fructosuria
Hyperglycemia, Impairment of fructose metabolism ORPHA:2056
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Decreased circulating aldoste... ORPHA:320
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Kennedy Disease
Abnormal circulating lipid concentration, Gait disturbance, Type II diabetes mellitus, Testicular... ORPHA:481
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Abn... ORPHA:71
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Abnormal circulating vitamin A concentration, Hepatitis, Cholestasis, Incre... ORPHA:209902
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Abn... ORPHA:95427
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr... OMIM:613280
Aceruloplasminemia
Abnormal dentate nucleus morphology, Decreased circulating ceruloplasmin concentration, Decreased... ORPHA:48818
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir... ORPHA:2298
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Decreased resting energy expendi... ORPHA:404454
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Familial Cervical Artery Dissection
Diabetes mellitus, Abnormal circulating lipid concentration ORPHA:36382
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Fructose into... OMIM:229600
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... ORPHA:848
Stt3B-Cdg
Cerebellar atrophy, Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Abnormal glycosylation OMIM:615597
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dysmetria, Dysdiadochokinesis, G... OMIM:616541
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jau... ORPHA:231226
Overlap Myositis
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... ORPHA:206572
Stt3A-Cdg
Cerebellar atrophy, Abnormal glycosylation ORPHA:370921
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait, Hyperammonemia, Dysphagia, Global brain atrophy OMIM:616457
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Hypersplenism, Spl... ORPHA:231214
Griscelli Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration ORPHA:381
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoproteinemia ORPHA:1979
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H... ORPHA:186
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Apolipoprotein A-I Deficiency
Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration ORPHA:425
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormality of vitamin metabolism, Hypoalbuminemia, Hypocalcemia, Hypomagnes... ORPHA:90362
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... ORPHA:829
Trichohepatoenteric Syndrome 1
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... OMIM:222470
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Anorexia, Pituitary corticotropic cell adenoma, Pancreati... ORPHA:99889
African Trypanosomiasis
Hepatomegaly, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, J... ORPHA:3385
Cushing Disease
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr... ORPHA:96253
Syndromic Diarrhea
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of the thymus,... ORPHA:84064
Fabry Disease
Anorexia, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration, Diabetes ins... ORPHA:324
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance OMIM:301020
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy ORPHA:2609

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 Ndufa1

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 Ndufa1.

No publications found that use IMPC mice or data for Ndufa1.

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MGI Allele Allele Type Produced
Ndufa1tm103509(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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