Gene Summary

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

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
embryonic lethality prior to organogenesis Sdhatm2b(KOMP)Wtsi HOM   E9.5 0.00
decreased circulating glucose level Sdhatm2b(KOMP)Wtsi HET Early adult 1.94×10-07
abnormal behavior Sdhatm2b(KOMP)Wtsi HET Early adult 1.12×10-07
preweaning lethality, complete penetrance Sdhatm2b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating free fatty acids level Sdhatm2b(KOMP)Wtsi HET Early adult 1.42×10-06
increased circulating sodium level Sdhatm2b(KOMP)Wtsi HET Early adult 1.15×10-07
decreased thigmotaxis Sdhatm2b(KOMP)Wtsi HET Early adult 1.13×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Forepaw

11 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Sleep Wake

Wake state (bmp file)

1 Images

Auditory Brain Stem Response

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

5 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
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Panic attack, Hypercalcemia ORPHA:29072
Leigh Syndrome With Leukodystrophy
Emotional lability ORPHA:255241
Isolated Succinate-Coq Reductase Deficiency
Irritability ORPHA:3208
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression OMIM:619259
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration ORPHA:154
Cardiomyopathy, Dilated, 1Gg
OMIM:613642
Paragangliomas 5
OMIM:614165
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
OMIM:252011
Gastrointestinal Stromal Tumor
ORPHA:44890

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:614736
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Irritability OMIM:300539
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Hyponatremia,... OMIM:610600
Pyruvate Carboxylase Deficiency
Apathy, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperalaninemia, Hypertaurinemi... ORPHA:3008
Central Diabetes Insipidus
Depression, Anxiety, Hyponatremia ORPHA:178029
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Irritability OMIM:240800
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Anxiety, Elevated circulating creatine kinase concentration, Hypern... ORPHA:94093
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Posttransplant Acute Limbic Encephalitis
Depression, Anxiety, Hyponatremia ORPHA:163921
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Abnormal fear/anxiety-related behavior, Depression, Increased erythrocyte protoporphyrin ... ORPHA:100924
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... ORPHA:556037
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatremia, Abnormal circul... ORPHA:556030
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Anxiety, Hyponatremia ORPHA:83601
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:177735
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:26793
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
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
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia, Diabetes mellitus OMIM:613845
Cholera
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Irritabi... ORPHA:173
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Irritability ORPHA:2089
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Necrotizing Enterocolitis
Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures, Hyponatremia, ... ORPHA:361
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:90790
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Glucocorticoid Resistance, Generalized
Hypoglycemia, Anxiety OMIM:615962
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Hartsfield Syndrome
Hypernatremia OMIM:615465
Whipple Disease
Depression, Hyponatremia, Insulin resistance ORPHA:3452
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... OMIM:615160
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia... ORPHA:1667
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... OMIM:231100
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hyper... ORPHA:199299
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Neonatal h... ORPHA:90791
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Snakebite Envenomation
Hyponatremia ORPHA:449285
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia ORPHA:664
Mirage Syndrome
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:617053
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anxiety, Hyponatremia ORPHA:79473
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Increased circulating renin level, Hypoglycemia, Hyponatrem... ORPHA:95409
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Alg8-Cdg
Hyponatremia ORPHA:79325
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... ORPHA:88673
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Pituitary Apoplexy
Hypoglycemia, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, Elevated circulatin... ORPHA:411634
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Emotional lability,... ORPHA:89938
Addison Disease
Decreased circulating cortisol level, Increased circulating renin level, Hypoglycemia, Type I dia... ORPHA:85138
Infant Botulism
Hyponatremia ORPHA:178478
Acute Intermittent Porphyria
Depression, Anxiety, Hyponatremia ORPHA:79276
Alg12-Cdg
Recurrent hypoglycemia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... ORPHA:90038
Legionnaires Disease
Hyponatremia ORPHA:549
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Abnormal circulating cho... ORPHA:289548
Shigellosis
Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Sheehan Syndrome
Hypoglycemia, Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Self-injurious behavior, Depression, Aggressive behavior, Hyponatremia, Emotional... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... OMIM:618838
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Glycosuria, Decreased pl... OMIM:219800
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia ORPHA:275761
Holoprosencephaly
Hypoglycemia, Hyponatremia, Diabetes mellitus ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Self-injurious behavior, Hypokalemia, Depression, Hypoammonemia, Anxiety, Hypon... ORPHA:534
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia OMIM:616026
Japanese Encephalitis
Hyponatremia ORPHA:79139
Familial Dysautonomia
Hyponatremia ORPHA:1764
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia, Diabetes mellitus ORPHA:544482
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hyponatremia, Neonatal hypoglycemia, Hypochloremia, Hyperka... ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease
Increased serum bile acid concentration, Hyponatremia ORPHA:731
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Panic attack, Hypercalcemia ORPHA:29072
Leigh Syndrome With Leukodystrophy
Emotional lability ORPHA:255241
Isolated Succinate-Coq Reductase Deficiency
Irritability ORPHA:3208
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression OMIM:619259
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration ORPHA:154
Paragangliomas 5
OMIM:614165
Cardiomyopathy, Dilated, 1Gg
OMIM:613642
Gastrointestinal Stromal Tumor
ORPHA:44890
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 6 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
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development (Cambridge, England) (May 2020) Sdhaf2em1(IMPC)J 32376682
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

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

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