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Gene: Sbsn MGI:2446326

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Gene Summary

Name:
suprabasin
Synonyms:
1110005D19Rik

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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
enlarged heart atrium Sbsnem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating creatine kinase level Sbsnem1(IMPC)Ccpcz HOM Early adult 3.29×10-11
decreased circulating sodium level Sbsnem1(IMPC)Ccpcz HOM Early adult 1.81×10-05
abnormal heart morphology Sbsnem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Sbsnem1(IMPC)Ccpcz HOM Early adult 1.29×10-07
abnormal joint morphology Sbsnem1(IMPC)Ccpcz HOM Early adult 7.88×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Sbsn 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hyponatremia, Prominent metopic ridge OMIM:608688
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Colchicine Poisoning
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal defect, Double o... ORPHA:1667
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... ORPHA:100924
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... ORPHA:247353
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Necrotizing Enterocolitis
Hyponatremia, Abnormal heart morphology ORPHA:391673
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... OMIM:618183
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Snakebite Envenomation
Hyponatremia ORPHA:449285
Legionnaires Disease
Hyponatremia, Myocarditis, Pericarditis, Endocarditis ORPHA:549
Whipple Disease
Hyponatremia, Myocarditis, Pericarditis, Arthritis ORPHA:3452
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Familial Glucocorticoid Deficiency
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia ORPHA:361
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... OMIM:610505
Alg8-Cdg
Hyponatremia ORPHA:79325
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Alg12-Cdg
Hyponatremia, Ulnar deviation of the wrist, Muscular ventricular septal defect, Biventricular hyp... ORPHA:79324
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Congenital hip dislocation, Hypokalemia, Hypocalcemia OMIM:617913
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Infant Botulism
Hyponatremia ORPHA:178478
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Peeling Skin Syndrome 6
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis OMIM:618084
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Shigellosis
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Arthritis ORPHA:810
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Left ventricular hypertrophy, ... OMIM:615474
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Liddle Syndrome
Hypokalemia ORPHA:526
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Japanese Encephalitis
Hyponatremia, Genu recurvatum, Elbow flexion contracture ORPHA:79139
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthritis ORPHA:544482
Adenohypophysitis
Hyponatremia ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr... ORPHA:167
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... OMIM:613095
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Panhypophysitis
Hyponatremia ORPHA:95513
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:168558
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... ORPHA:289548
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Holoprosencephaly
Hyponatremia, Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology ORPHA:2162
Familial Dysautonomia
Hyponatremia ORPHA:1764
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Webb-Dattani Syndrome
Hypernatremia, Hip dislocation OMIM:615926
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hip dislocation, Genu valgum, Arthritis, Hypokalemia, Joint swelling... ORPHA:534
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Liver Disease, Severe Congenital
Hypoproteinemia, Hyponatremia, Ventricular septal defect, Left atrial enlargement, Elevated circu... OMIM:619991
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Genu valgum, Hypokalemia, Hypomagnes... OMIM:219800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Sheehan Syndrome
Hyponatremia ORPHA:91355
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis OMIM:612281
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level ORPHA:320
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia ORPHA:293987
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hyperkalemia, Radioul... OMIM:201750
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia ORPHA:251274
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hypokalemia, Ventricular septal defect ORPHA:369929
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Arthritis, Joint swelling, Hypoalbuminemia... OMIM:619381
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Chondrocalcinosis, Hypomagnesemia OMIM:263800
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Mercury Poisoning
Hypokalemia ORPHA:330021
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Rabson-Mendenhall Syndrome
Ventricular septal defect, Cardiomyopathy, Hypokalemia, Atrial septal defect, Increased C-peptide... ORPHA:769
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat... OMIM:619573
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Pearson Syndrome
Abnormal heart morphology, Hypophosphatemia, Cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagne... ORPHA:699
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Gitelman Syndrome
Pericardial effusion, Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Chondroca... ORPHA:358
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90793
Marburg Hemorrhagic Fever
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... ORPHA:99826
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Scorpion Envenomation
Myocarditis, Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating cr... ORPHA:466677
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Subvalvular aortic stenosis ORPHA:47159
Leprechaunism
Hypokalemia, Hypertrophic cardiomyopathy, Increased circulating renin level ORPHA:508
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Hypokalemia ORPHA:91347
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Abnormal heart valve morphology, Osteoarthritis, M... ORPHA:286

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 Sbsn

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 Sbsn.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sbsnem1(IMPC)Ccpcz Indel Mice
Sbsntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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