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Gene: Ablim1 MGI:1194500

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Gene Summary

Name:
actin-binding LIM protein 1
Synonyms:
abLIM-L,  abLIM-M,  2610209L21Rik,  2210411C18Rik,  9330196J19Rik,  abLIM-S,  4833406P10Rik,  Limab1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased circulating glucose level Ablim1tm1H HOM Early adult 2.85×10-06
increased total body fat amount Ablim1tm1H HOM Early adult 3.05×10-05
eye hemorrhage Ablim1tm1H HOM Early adult 8.43×10-08
increased bone mineral content Ablim1tm1H HOM Early adult 9.22×10-08
abnormal bone mineralization Ablim1tm1H HOM Early adult 6.40×10-06
decreased circulating potassium level Ablim1tm1H HOM Early adult 2.22×10-06
increased lean body mass Ablim1tm1H HOM Early adult 9.53×10-08
abnormal bone structure Ablim1tm1H HOM Early adult 1.71×10-06
decreased thermal nociceptive threshold Ablim1tm1H HOM Early adult 8.63×10-09

Download data as:  TSV  XLS

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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 Ablim1 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 Ablim1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Retinopathy Of Prematurity
Vitreous hemorrhage, Small for gestational age ORPHA:90050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Exudative Vitreoretinopathy 4
Osteopenia, Vitreous hemorrhage OMIM:601813
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... OMIM:227810
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Osteoporosis, Obesity, Hypertension, Hypokalemia, Abdominal obesity, ... OMIM:219090
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration OMIM:607748
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Rickets OMIM:611590
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Cystinosis
Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Failure to... ORPHA:213
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Fractures of the long bones, Osteolysis, Subco... ORPHA:464329
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... OMIM:616026
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... ORPHA:340
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia OMIM:613388
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility, Episodic hypokalemia, Mildly eleva... ORPHA:681
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... ORPHA:99826
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Conjugated hyperbilirubinemia, Rickets, Failure to thrive OMIM:211600
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi... ORPHA:682
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Inguinal hernia, Abnormality of subcutaneous fat tissue, Ost... ORPHA:1901
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... ORPHA:2088
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations, Weight loss OMIM:188580
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization, Reduced bone mineral den... ORPHA:891
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Apparent Mineralocorticoid Excess
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re... OMIM:218030
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... ORPHA:99827
Lujo Hemorrhagic Fever
Shock, Stiff neck, Elevated circulating C-reactive protein concentration, Excessive bleeding afte... ORPHA:319213
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets, Glycosuria OMIM:615605
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Vasculitis, Hematochezia, Subconjunctival ... OMIM:617718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:403
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Increased susceptibility to fractures, ... ORPHA:3337
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:404
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur... OMIM:615368
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
Tachycardia, Hypokalemia, Weight loss OMIM:613239
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:277440
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... ORPHA:231625
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia ORPHA:251274
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Failure to thrive, Osteoporosis, Rickets OMIM:560000
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... OMIM:300009
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia ORPHA:199296
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization OMIM:133780
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... ORPHA:173
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:177200
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Failure to ... ORPHA:411629
Osteootohepatoenteric Syndrome
Recurrent fractures, Reduced bone mineral density, Weight loss, Hypokalemia, Increased serum bile... OMIM:619377
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... ORPHA:40923
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension OMIM:611489
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hypokalem... ORPHA:369929
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Raynaud ... ORPHA:358
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Hypertension, Hypokalemia, Palpitations, Decreased circulating renin level ORPHA:231580
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Ectopic Aldosterone-Producing Tumor
Hypertension, Hypokalemia, Epistaxis, Decreased circulating renin level ORPHA:231632
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... ORPHA:2176
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous ... ORPHA:249
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive OMIM:203400
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... ORPHA:79102
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia OMIM:607765
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Prolonged prothrombin time, Hypocalcemia, Type I diabetes mel... OMIM:212750
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Prolonged prothrombin time, Hyperbilirubinemia, Abnormal ... ORPHA:79303
Adrenocortical Carcinoma
Diabetes mellitus, Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations ORPHA:1501
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen... OMIM:611773
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... OMIM:610600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia OMIM:614736
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Hypertension, Hypokalemia, Hypocalcemia OMIM:617913
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Weight loss, Hypovolemic... ORPHA:171876
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Failure to thrive, Hypoglycemia, Hypercalcemia, Hyperkalem... ORPHA:199299
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... OMIM:613095
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:613677
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... ORPHA:18
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... ORPHA:411634
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:320
Retinoblastoma
Vitreous hemorrhage, Cellulitis, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Mercury Poisoning
Hypertension, Tachycardia, Hypokalemia, Hypotension ORPHA:330021
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Failure to thrive, Hyperkalemia, Hypotension OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive OMIM:177735
Dent Disease
Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Elevated circulating creatine kinase c... ORPHA:1652
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Glycosuria OMIM:268315
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Joint laxity, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palp... OMIM:170390
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arterial hypertension,... OMIM:615474
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Reduced bone mineral density, Hypokalemia... ORPHA:47159
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Mirage Syndrome
Hyponatremia, Hypoglycemia, Radial club hand, Hyperkalemia, Intracranial hemorrhage, Decreased bo... OMIM:617053
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased... ORPHA:508
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Low-to... OMIM:241200
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Reduced blood urea nitrog... OMIM:219800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Hypoglycemia, Portal hypert... OMIM:613658
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Atelis Syndrome 2
Vitreous hemorrhage, Hyperinsulinemia, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Tsh-Secreting Pituitary Adenoma
Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Weight loss, Hyp... ORPHA:91347
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating protein concentration, Abnormal circulating albumin conce... ORPHA:86839
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... ORPHA:427
Vipoma
Diabetes mellitus, Hypercalcemia, Weight loss, Hematochezia, Hypokalemia, Subcutaneous lipoma ORPHA:97282
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Weight loss, Hypotension... ORPHA:361
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammonemia,... ORPHA:534
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... OMIM:277900
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Hypokalemia, Decreased circulating renin level ORPHA:90795
Addison Disease
Hyponatremia, Orthostatic hypotension, Failure to thrive, Hypoglycemia, Hypercalcemia, Hyperkalem... ORPHA:85138
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial infarction, Hypovo... ORPHA:95409
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension OMIM:607364
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hypovolemia, Hyperkalemia, Reduced bone mineral density, Abnormal cir... ORPHA:168558
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Increased circ... ORPHA:89938
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Hypokalemia, Type II diabetes mellitus ORPHA:199244
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Subretinal pigment epithelium hemorrhage, Generalized joint laxit... ORPHA:357074
Pearson Syndrome
Diabetes mellitus, Small for gestational age, Cardiac conduction abnormality, Hypophosphatemia, C... ORPHA:699
Nephronophthisis 2
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia OMIM:602088
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hypovolemia, Hyperkalemia, Reduced bone mineral density, Abnormal cir... ORPHA:289548
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... ORPHA:198
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Hyperkalemia, Hypertension, Glycosuria, Failure to thrive ORPHA:97362
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Hypokalemia, Hypoglycemia ORPHA:786
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Elevated circulat... OMIM:309000
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:90793
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, Ne... ORPHA:90791
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Congestiv... ORPHA:464
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... OMIM:614653
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:602522
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... OMIM:619573
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Birk-Landau-Perez Syndrome
Hypertension, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M... OMIM:617595
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia ORPHA:25
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula... ORPHA:423
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia ORPHA:90790
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Flexion contracture, Hyphema, Pulmonic stenosis, Camptodactyly, Right unicoronal synostosis, Aort... ORPHA:261552
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Granulomatosis With Polyangiitis
Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Familial Drusen
Macular hemorrhage ORPHA:75376
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Recurrent hypoglycemia, Hypotension, Failure to thrive ORPHA:293978
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Osteoa... ORPHA:286
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... OMIM:619381
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Hypovolemia, Hyperkalemia, We... ORPHA:275761
Rift Valley Fever
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding ORPHA:319251
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyp... ORPHA:466650
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Osteomalacia, Failure to thrive in infancy, Retinal hemorrhage, Abnorm... ORPHA:51608
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Diabetes mellitus, Cachexia, Retinal hemorrhage, Hypertensio... ORPHA:191
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Septic ar... ORPHA:544482
Cockayne Syndrome Type 3
Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pre... ORPHA:90324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Incontinentia Pigmenti
Scarring, Retinal hemorrhage OMIM:308300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Weight loss, Hypochloremia, Hypotension, Failure ... ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Small for gestational age, Tarsal synostosis, Craniosynostosis, Hypoglycemia, Humer... OMIM:201750
Trichinellosis
Retinal hemorrhage ORPHA:863
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia ORPHA:293987
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retinal hemorrhage, Isch... OMIM:175780
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098

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 Ablim1

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 Ablim1.

No publications found that use IMPC mice or data for Ablim1.

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
Ablim1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ablim1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ablim1tm1H Reporter-tagged deletion allele (with selection cassette) ES Cells

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