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Gene: Sdha MGI:1914195

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Gene Summary

Name:
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Synonyms:
2310034D06Rik,  SDH2,  FP,  SDHF

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Sdhatm2b(KOMP)Wtsi HET Early adult 1.09×10-07
embryonic lethality prior to organogenesis Sdhatm2b(KOMP)Wtsi HOM   E9.5 0.00
preweaning lethality, complete penetrance Sdhatm2b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating sodium level Sdhatm2b(KOMP)Wtsi HET Early adult 1.15×10-07
increased circulating free fatty acids level Sdhatm2b(KOMP)Wtsi HET Early adult 1.42×10-06
abnormal behavior Sdhatm2b(KOMP)Wtsi HET Early adult 1.09×10-07
decreased circulating glucose level Sdhatm2b(KOMP)Wtsi HET Early adult 1.94×10-07

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Ear N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)

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 marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 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%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

46 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Combined SHIRPA and Dysmorphology

Images

6 Images

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Eye Morphology

Images Slit Lamp

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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Sleep Wake

Wake state (bmp file)

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

5 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Succinate-Coq Reductase Deficiency
Irritability ORPHA:3208
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression OMIM:619259
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration ORPHA:154
Gastrointestinal Stromal Tumor
Dysphagia ORPHA:44890
Cardiomyopathy, Dilated, 1Gg
OMIM:613642
Pheochromocytoma/Paraganglioma Syndrome 5
OMIM:614165
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
OMIM:252011

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... ORPHA:293964
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Hypernatremia OMIM:304800
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... ORPHA:199296
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Ano... ORPHA:3008
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Anorexia, Depression ORPHA:178029
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... OMIM:610600
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia OMIM:614736
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... ORPHA:100924
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Depression ORPHA:163921
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia OMIM:264350
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... ORPHA:173
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,... ORPHA:361
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia ORPHA:449285
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk... ORPHA:199299
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Depression ORPHA:83601
Whipple Disease
Hyponatremia, Anorexia, Insulin resistance, Depression, Polydipsia ORPHA:3452
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:95409
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... OMIM:603553
Infant Botulism
Hyponatremia, Anorexia, Dysphagia ORPHA:178478
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia ORPHA:90790
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... ORPHA:1667
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... ORPHA:90791
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia OMIM:619381
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Hartsfield Syndrome
Hypernatremia OMIM:615465
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Mirage Syndrome
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:617053
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:85138
Alg8-Cdg
Hyponatremia ORPHA:79325
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Legionnaires Disease
Hyponatremia, Anorexia ORPHA:549
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia ORPHA:95613
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... ORPHA:293987
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Anorexia ORPHA:810
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Panhypophysitis
Hyponatremia, Polydipsia, Decreased circulating cortisol level ORPHA:95513
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia OMIM:602522
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia ORPHA:293978
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:89938
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Pseudobulbar paralysis, Depression ORPHA:79276
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Oral-pharyngeal dysphagia, Hypomagnesemia, Reduced blood urea ni... OMIM:219800
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia ORPHA:91355
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Japanese Encephalitis
Hyponatremia, Anorexia ORPHA:79139
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Familial Dysautonomia
Hyponatremia ORPHA:1764
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia ORPHA:544482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Neonatal hypogly... ORPHA:90794
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Polydipsia, Increased serum bile acid concentration ORPHA:731
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Elevated serum 11... OMIM:201750
Isolated Succinate-Coq Reductase Deficiency
Irritability ORPHA:3208
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression OMIM:619259
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration ORPHA:154
Gastrointestinal Stromal Tumor
Dysphagia ORPHA:44890
Pheochromocytoma/Paraganglioma Syndrome 5
OMIM:614165
Cardiomyopathy, Dilated, 1Gg
OMIM:613642
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
OMIM:252011

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 Sdha

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 Sdha.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Impact of Automated Genotyping and Increased Breeding Oversight on Overall Mouse Breeding Colony Productivity. Frontiers in physiology (July 2022) Sdhaf1tm1.1(KOMP)Vlcg PMC9340497
A redox cycle with complex II prioritizes sulfide quinone oxidoreductase-dependent H2S oxidation. The Journal of biological chemistry (November 2021) Sdhatm2a(KOMP)Wtsi PMC8683732
Mitochondrial complex II in intestinal epithelial cells regulates T cell-mediated immunopathology. Nature immunology (October 2021) Sdhatm2c(KOMP)Wtsi Sdhaf1tm1.1(KOMP)Vlcg 34686860
Targeting alveolar-specific succinate dehydrogenase A attenuates pulmonary inflammation during acute lung injury. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2021) Sdhatm2a(KOMP)Wtsi PMC8250206
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Sdhaf2em1(IMPC)J 32376682
Dietary schizophyllan reduces mitochondrial damage by activating SIRT3 in mice. Archives of pharmacal research (March 2020) Sdhatm2b(KOMP)Wtsi 32236798
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Sdhatm2b(KOMP)Wtsi PMC5503261
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Sdhatm2a(KOMP)Wtsi PMC3699516

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sdhatm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sdhatm50282(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sdhatm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sdhatm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Sdhatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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