Gene Summary

Name:
succinate dehydrogenase complex, subunit C, integral membrane protein
Synonyms:
0610010E03Rik

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
thrombocytosis Sdhctm1a(EUCOMM)Wtsi HET Early adult 2.07×10-06
increased body weight Sdhctm1a(EUCOMM)Wtsi HET Early adult 5.11×10-05
embryonic lethality prior to tooth bud stage Sdhctm1b(EUCOMM)Wtsi HOM   E12.5 0.00
preweaning lethality, complete penetrance Sdhctm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

10 Images

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Legacy Phenotype Associated Images

View all 263 images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Cowden Syndrome
Failure to thrive ORPHA:201
Gastrointestinal Stromal Tumor
Anemia ORPHA:44890
Gastrointestinal Stromal Tumor
OMIM:606764
Paraganglioma And Gastric Stromal Sarcoma
OMIM:606864
Pheochromocytoma/Paraganglioma Syndrome 3
OMIM:605373

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia OMIM:604416
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis OMIM:614034
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, Anemia OMIM:615934
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive OMIM:212750
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Weight loss ORPHA:134
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... ORPHA:324636
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Poems Syndrome
Thrombocytosis, Polycythemia, Weight loss ORPHA:2905
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... OMIM:301074
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Interstitial Lung And Liver Disease
Thrombocytosis, Failure to thrive, Anemia OMIM:615486
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Anemia OMIM:614450
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive OMIM:212065
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ... OMIM:222470
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia OMIM:618213
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop... OMIM:615688
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Syndromic Diarrhea
Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus... ORPHA:84064
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Brucellosis
Small for gestational age, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Weight lo... ORPHA:1304
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614520
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... ORPHA:2968
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Doors Syndrome
Thrombocytosis ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
Narcolepsy 7
Obesity OMIM:614250
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Insulinoma
Increased body weight ORPHA:97279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Failure to thrive, Anemia ORPHA:264580
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Increased body weight, Anemia ORPHA:79240
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight... ORPHA:2298
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Cushing Disease
Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased e... ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Cowden Syndrome
Failure to thrive ORPHA:201
Gastrointestinal Stromal Tumor
Anemia ORPHA:44890
Gastrointestinal Stromal Tumor
OMIM:606764
Paraganglioma And Gastric Stromal Sarcoma
OMIM:606864
Pheochromocytoma/Paraganglioma Syndrome 3
OMIM:605373

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.

Phenotype Allele Zygosity Sex Life Stage
Eye with optic nerve - atrophy Sdhctm1a(EUCOMM)Wtsi HET Early adult

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 Sdhc.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Attempts to understand the mechanisms of mitochondrial diseases: The reverse genetics of mouse models for mitochondrial disease. Biochimica et biophysica acta. General subjects (December 2020) Sdhctm1c(EUCOMM)Wtsi 33358867
Unexpected obesity, rather than tumorigenesis, in a conditional mouse model of mitochondrial complex II deficiency. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (November 2020) Sdhctm1a(EUCOMM)Wtsi PMC7861419
A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2019) Sdhctm1c(EUCOMM)Wtsi Sdhctm1a(EUCOMM)Wtsi 31469588
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sdhctm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sdhctm1a(EUCOMM)Wtsi PMC6459510
Oxygen concentration controls epigenetic effects in models of familial paraganglioma. PloS one (May 2015) Sdhctm1c(EUCOMM)Wtsi Sdhctm1a(EUCOMM)Wtsi PMC4436181

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sdhctm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Sdhctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sdhctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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