Gene Summary

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

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
increased circulating potassium level Asb5em1(IMPC)Ccpcz HOM Early adult 7.93×10-06
abnormal thymus morphology Asb5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Asb5em1(IMPC)Ccpcz HOM   Early adult 5.66×10-05
enlarged thymus 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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Viewing: all phenotypes

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 Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Cryptorchidism OMIM:614736
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Cholelithiasis ORPHA:171876
Hereditary Coproporphyria
Hyponatremia, Back pain, Abnormal circulating porphyrin concentration ORPHA:79273
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Mirage Syndrome
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Lymphopenia, Scoliosis, Thrombocytopenia, Cryptor... OMIM:617053
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Myeloproliferative disorder, Increased erythrocyte protoporphyrin concentration, Ab... ORPHA:100924
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total bilirubin, Sp... OMIM:603553
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Snakebite Envenomation
Hyponatremia, Thrombocytopenia, Hypopituitarism ORPHA:449285
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Panhypophysitis
Hyponatremia, Increased circulating prolactin concentration, Abnormal size of pituitary gland, No... ORPHA:95513
Adenohypophysitis
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Normochro... ORPHA:95512
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hemolytic anemia, Splenomegaly OMIM:608885
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Pituitary Apoplexy
Hyponatremia, Increased circulating prolactin concentration, Normochromic anemia, Pituitary hypot... ORPHA:95613
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Cryptorchidism OMIM:618183
Legionnaires Disease
Hyponatremia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia ORPHA:549
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Congenital adrenal hyperplasia, Increased circulating renin level, Cr... ORPHA:90791
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Macroorchidism, Adrenal hyperplasia ORPHA:90790
Adrenal Hypoplasia, Congenital
Hyponatremia, Cryptorchidism OMIM:300200
Liddle Syndrome 3
Hypokalemia OMIM:618126
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Hyperurice... ORPHA:199299
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Porphyria Variegata
Hyponatremia, Anemia, Back pain, Abnormal circulating porphyrin concentration ORPHA:79473
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Testicular adrenal rest tumor, Cryptorchidism, Leydig cell neoplasia ORPHA:361
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Whipple Disease
Anemia, Hyponatremia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:3452
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... ORPHA:90038
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hypokalemia OMIM:304900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Abnormal size of pituitary gland, Abnormal lymphocyte morphology, Autoimmune thromb... ORPHA:293978
Sheehan Syndrome
Hyponatremia, Abnormal size of pituitary gland, Normochromic anemia, Pituitary hypothyroidism, Se... ORPHA:91355
Ch├ędiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytop... ORPHA:167
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia OMIM:613239
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Increased circulatin... ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia OMIM:188580
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Webb-Dattani Syndrome
Cryptorchidism, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, ... OMIM:615926
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoparathyroidism, Normocytic anemia, Thiamine-respon... ORPHA:85138
Infant Botulism
Hyponatremia ORPHA:178478
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormality of the Leydig cells, Abnormal circulating cholesterol con... ORPHA:168558
Shigellosis
Hyponatremia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia,... ORPHA:810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormality of the Leydig cells, Abnormal circulating cholesterol con... ORPHA:289548
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Thrombocytopenia, Cryptorc... ORPHA:79324
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hypercholeste... ORPHA:275761
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Abnormal form of the vertebral bodies, Panhypopituitaris... ORPHA:2162
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
Familial Dysautonomia
Hyponatremia, Scoliosis ORPHA:1764
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Acute Intermittent Porphyria
Hyponatremia, Back pain ORPHA:79276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Platyspondyly, Anemia, Kyphosis, Hypercholesterolemi... ORPHA:534
Liddle Syndrome
Hypokalemia ORPHA:526
Japanese Encephalitis
Hyponatremia, Neutrophilia ORPHA:79139
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia OMIM:613677
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia ORPHA:404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Gonadotropin deficiency, Adrenocorticotropic hormone deficiency, Ce... ORPHA:293987
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia ORPHA:403
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Pancreatic cysts, Splenomegaly, Biliary hyperplasia, Hepatosplenomegaly, Increased ... ORPHA:731
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... ORPHA:3008
Cystinosis, Nephropathic
Hyponatremia, Decreased plasma carnitine, Hypophosphatemic rickets, Splenomegaly OMIM:219800
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Hypokalemia, Kyphosis, Pituitary adenoma, Vertebral compression fracture OMIM:219090
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia ORPHA:251274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Testicular adrenal rest tumor, Hypochloremia, Abnormal ovarian physio... ORPHA:90794
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia ORPHA:231580
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Decreased circulating renin level, Hypokalemia ORPHA:231632
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia OMIM:175500
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Hartsfield Syndrome
Gonadotropin deficiency, Cryptorchidism, Hypernatremia OMIM:615465
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypokalemia OMIM:617671
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Back pain, Thr... ORPHA:340
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia ORPHA:369929
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, Lymphadenopathy, T lymph... OMIM:619381
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Vipoma
Hypercalcemia, Hypokalemia, Normochromic anemia, Neoplasm of the pancreas, Increased circulating ... ORPHA:97282
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Elevated circulating follicle stimulating hormone level, Hypok... ORPHA:90793
Nelson Syndrome
Increased circulating prolactin concentration, Hypokalemia, Pituitary carcinoma, Pituitary cortic... ORPHA:199244
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Decreased testicular size, Hypokalemia, Congenital adrenal hyp... OMIM:202010
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Hypokalemia OMIM:170390
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Anemia, Hypokalemia OMIM:619377
Pearson Syndrome
Hypoparathyroidism, Neutropenia, Hypokalemia, Decreased response to growth hormone stimulation te... ORPHA:699
Adrenocortical Carcinoma
Hypokalemia, Adrenocorticotropic hormone deficiency ORPHA:1501
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Mercury Poisoning
Hypokalemia ORPHA:330021
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Polycystic ovaries, Testicular adrenal rest tumor, Hypokalemia ORPHA:90795
Marburg Hemorrhagic Fever
Hyperamylasemia, Thrombocytopenia, Hypokalemia, Leukopenia, Elevated circulating creatine kinase ... ORPHA:99826
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Goiter, Hypokalemia, Secondary growth hormone deficiency, Abnormality o... ORPHA:91347
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypokalemia ORPHA:786
Rabson-Mendenhall Syndrome
Enlarged ovaries, Increased C-peptide level, Increased pineal volume, Hypokalemia ORPHA:769
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Hypokalemia, Hyp... OMIM:619573
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Gitelman Syndrome
Hypokalemia, Iron deficiency anemia, Neoplasm of the pancreas, Hypomagnesemia, Hypocalcemia, Hype... ORPHA:358
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Abnormal form of the vertebral bodies, Kyph... ORPHA:744
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia ORPHA:18
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Proximal Renal Tubular Acidosis
Bicarbonaturia, Hypokalemia, Hyperuricosuria ORPHA:47159
Leprechaunism
Increased circulating renin level, Enlarged ovaries, Hypokalemia ORPHA:508
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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