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Gene: Phb1 MGI:97572

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Gene Summary

Name:
prohibitin 1
Synonyms:
Phb

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
preweaning lethality, complete penetrance Phbem1(IMPC)H HOM   Early adult 0.00
increased large unstained cell number Phbem1(IMPC)H HET   Early adult 6.99×10-05
decreased circulating potassium level Phbem1(IMPC)H HET   Early adult 7.61×10-05
decreased red blood cell distribution width Phbem1(IMPC)H HET Early adult 8.08×10-05
increased blood urea nitrogen level Phbem1(IMPC)H HET   Early adult 5.82×10-07

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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.

Phenotype associated images not available

Human diseases caused by Phb1 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 Phb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Breast Cancer
OMIM:114480

The table below shows human diseases predicted to be associated to Phb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia OMIM:620085
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... OMIM:616860
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... OMIM:615631
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... OMIM:300908
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... OMIM:613845
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... OMIM:224120
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... ORPHA:231111
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... ORPHA:71275
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... OMIM:616959
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... OMIM:615517
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Liddle Syndrome
Hypokalemia ORPHA:526
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Anemia OMIM:620366
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia, Anemia OMIM:175500
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Colchicine Poisoning
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... ORPHA:90038
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... ORPHA:447
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia, Anemia OMIM:174900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis... OMIM:308240
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hemolytic anemia, Hyperkalemia ORPHA:57
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Anemia ORPHA:90321
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Normocytic anemia, Increased blood urea ni... ORPHA:49041
East Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia ORPHA:199343
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Decreased circulating renin level, Hyperkalemia OMIM:614492
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis ORPHA:514
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Anemia OMIM:619377
Hepatocellular Carcinoma
Liver abscess, Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocy... ORPHA:88673
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... ORPHA:1667
Congenital Erythropoietic Porphyria
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal ... ORPHA:79277
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, Lymphopenia, Hypokalemia,... OMIM:619573
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Hyperkalemia, Thrombocytopenia, Hyponatremia OMIM:617053
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Mercury Poisoning
Hypokalemia ORPHA:330021
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Hyperalaninemia, Hypokalemia, Thro... ORPHA:699
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp... ORPHA:99826
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia ORPHA:86843
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:612780
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly OMIM:608885
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Hyperkalemia, Hyponatremia, Hy... ORPHA:199299
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Lymp... OMIM:301074
Gitelman Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:263800
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Reduced blood urea nitrogen, Hypophosphatemic rickets, Hyponatremi... OMIM:219800
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Anemia ORPHA:97362
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Thyrotoxic Periodic Paralysis
Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, ... ORPHA:79102
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Absent natural killer cells, Aplastic anemia, Hemophagocytosis, Granulomatosi... ORPHA:2442
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:602522
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Bartter Syndrome Type 4
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia ORPHA:89938
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Anemia, Hypokalemia, Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypercholes... ORPHA:534
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Acute Adrenal Insufficiency
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Hyponatremia, ... ORPHA:95409
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypomagnesemia ORPHA:358
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia OMIM:233450
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Bartter Syndrome, Type 2, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:241200
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Hepatosplenomegaly, Anemia, Bone-marrow foam cells, Hyponatremia, Hyperka... ORPHA:275761
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Severe B lymphocytopenia, Abnormal lymphocyte morphology, Hyperkalem... ORPHA:293978
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Addison Disease
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Thiamine-respo... ORPHA:85138
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Lymphocytosis, Decreased... OMIM:617718
Nelson Syndrome
Hypokalemia ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Hyponatremia, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Brain... ORPHA:544482
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circulating cre... ORPHA:340
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Proximal Renal Tubular Acidosis
Bicarbonaturia, Hypokalemia ORPHA:47159
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Leprechaunism
Increased circulating renin level, Hypokalemia ORPHA:508
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein conc... ORPHA:50918
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:289548
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating renin level, Hyperkalemia OMIM:201750
Breast Cancer
OMIM:114480

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 Phb1

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 Phb1.

No publications found that use IMPC mice or data for Phb1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Phb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phb1em1(IMPC)H Exon Deletion Mice
Phb1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Phb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Phb1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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