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Gene: Asb5 MGI:1923544

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Gene Summary

Name:
ankyrin repeat and SOCs box-containing 5
Synonyms:
1110018D09Rik

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
increased circulating potassium level Asb5em1(IMPC)Ccpcz HOM Early adult 6.22×10-06
enlarged thymus Asb5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Asb5em1(IMPC)Ccpcz HOM   Early adult 5.39×10-05
abnormal thymus morphology Asb5em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating sodium level Asb5em1(IMPC)Ccpcz HOM Early adult 5.02×10-06

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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 Forepaw

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Human diseases caused by Asb5 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 Asb5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
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
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Pituitary adenoma, Adrenocor... ORPHA:91354
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
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
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia OMIM:614736
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
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
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... OMIM:613845
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Back pain, Anemia ORPHA:79273
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Mirage Syndrome
Hyponatremia, Cryptorchidism, Thrombocytopenia, Hyperkalemia, Leukopenia, Scoliosis, Hypoplastic ... OMIM:617053
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... ORPHA:100924
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Adenohypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95512
Panhypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95513
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcem... ORPHA:199299
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia, Anemia ORPHA:97362
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Adrenocorticotropic hormone excess, Increased circula... ORPHA:90791
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Pituitary Apoplexy
Hyponatremia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... ORPHA:95613
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Adrenal Hypoplasia, Congenital
Hyponatremia, Cryptorchidism OMIM:300200
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Back pain, Anemia ORPHA:79473
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Hyponatremia, Adrenal hyperplasia, Hyperkalemia ORPHA:90790
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Familial Glucocorticoid Deficiency
Hyponatremia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Leydig cell neoplasia ORPHA:361
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Cryptorchidism, Adrenal hyperplasia, Hyperkalemia OMIM:201810
Whipple Disease
Splenomegaly, Mediastinal lymphadenopathy, Hyponatremia, Anemia ORPHA:3452
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... ORPHA:167
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Sheehan Syndrome
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:91355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... ORPHA:293978
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter OMIM:188580
Infant Botulism
Hyponatremia ORPHA:178478
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Alg12-Cdg
Hyponatremia, Cryptorchidism, B lymphocytopenia, Hypoalbuminemia, Scoliosis, Hypocholesterolemia,... ORPHA:79324
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Shigellosis
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... ORPHA:810
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Adren... ORPHA:168558
Addison Disease
Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Hypercalcemia, T... ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Cryptorchidism, Hyperkalemia, Adren... ORPHA:289548
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Goiter OMIM:613239
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Familial Dysautonomia
Hyponatremia, Scoliosis ORPHA:1764
Holoprosencephaly
Hyponatremia, Short neck, Cryptorchidism, Abnormality of the spleen, Abnormal form of the vertebr... ORPHA:2162
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Birk-Landau-Perez Syndrome
Camptocormia, Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Acute Intermittent Porphyria
Hyponatremia, Back pain ORPHA:79276
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Thrombocytopenia, Kyphosis, Hyp... ORPHA:534
Liddle Syndrome
Hypokalemia ORPHA:526
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia ORPHA:544482
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone ... ORPHA:293987
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... OMIM:219800
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Familial Hyperaldosteronism Type I
Hypokalemia, Adrenal hyperplasia ORPHA:403
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Familial Hyperaldosteronism Type Ii
Hypokalemia, Adrenal hyperplasia ORPHA:404
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Biliary hyperplasia, Pancreatic cysts, Hypersplenism, Splenomegaly, Hepatosplenomeg... ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Biliary hyperplasia, Splenome... OMIM:619991
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level ORPHA:231580
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Familial Hyperaldosteronism Type Iii
Hypokalemia, Adrenal hyperplasia ORPHA:251274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Testicular adrenal rest tumor, Hypochloremia, Decreased testicular size ORPHA:90794
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Ovarian neoplasm ORPHA:231632
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Cryptorchidism, Hyperkalemia, Hemivertebrae, Polycystic ovaries, Ovarian cyst, Scol... OMIM:201750
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hemorrhagic Fever-Renal Syndrome
Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp... ORPHA:340
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Helix Syndrome
Hypokalemia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hartsfield Syndrome
Cryptorchidism, Hypernatremia, Gonadotropin deficiency OMIM:615465
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Adrenal hyperplasia ORPHA:369929
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased circulating g... ORPHA:90793
Nelson Syndrome
Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Hy... ORPHA:199244
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Vipoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... ORPHA:97282
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Congenital adrenal hyperplasia, Decreased testicular size, Decreased circulating ren... OMIM:202010
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... ORPHA:699
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Anemia OMIM:619377
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia ORPHA:1501
Mercury Poisoning
Hypokalemia ORPHA:330021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Testicular adrenal rest tumor, Polycystic ovaries ORPHA:90795
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... ORPHA:99826
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Scoliosis OMIM:170390
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Adrenal hyperplasia ORPHA:786
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Rabson-Mendenhall Syndrome
Hypokalemia, Enlarged ovaries, Increased pineal volume, Increased C-peptide level ORPHA:769
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Gitelman Syndrome
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... ORPHA:358
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Kyphosis, Abn... ORPHA:744
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Leprechaunism
Hypokalemia, Enlarged ovaries, Increased circulating renin level ORPHA:508
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... ORPHA:466677
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Hypokalemia 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 Asb5

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 Asb5.

No publications found that use IMPC mice or data for Asb5.

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MGI Allele Allele Type Produced
Asb5em1(IMPC)Ccpcz Exon Deletion Mice
Asb5tm78114(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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