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Gene: Ablim1 MGI:1194500

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	Allele	Zyg	Life Stage	P Value
decreased thermal nociceptive threshold	Ablim1^tm1H	HOM	Early adult	8.63×10^-09
increased bone mineral content	Ablim1^tm1H	HOM	Early adult	9.22×10^-08
increased total body fat amount	Ablim1^tm1H	HOM	Early adult	3.05×10^-05
abnormal bone structure	Ablim1^tm1H	HOM	Early adult	1.71×10^-06
increased lean body mass	Ablim1^tm1H	HOM	Early adult	9.53×10^-08
decreased circulating potassium level	Ablim1^tm1H	HOM	Early adult	2.22×10^-06
decreased circulating glucose level	Ablim1^tm1H	HOM	Early adult	2.85×10^-06
abnormal bone mineralization	Ablim1^tm1H	HOM	Early adult	6.40×10^-06
eye hemorrhage	Ablim1^tm1H	HOM	Early adult	8.43×10^-08

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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.

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.

Human diseases associated with Ablim1 (0 diseases)
Human diseases predicted to be associated with Ablim1 (248 diseases)

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	Matching phenotypes	Source
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost...	OMIM:241520
Retinopathy Of Prematurity	Small for gestational age, Vitreous hemorrhage	ORPHA:90050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi...	OMIM:179800
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Osteomalacia	OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive, Hypokalemia	OMIM:602722
Fanconi-Bickel Syndrome	Osteomalacia, Glycosuria, Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Fai...	OMIM:227810
Hypophosphatemic Bone Disease	Rickets, Hypophosphatemia, Osteomalacia	OMIM:146350
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia	OMIM:193100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Hyperbilirubinemia...	ORPHA:464321
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Osteopenia	OMIM:601813
Retinal Capillary Malformation	Hyphema, Vitreous hemorrhage	ORPHA:71213
Fanconi Renotubular Syndrome 1	Osteomalacia, Glycosuria, Hypokalemia, Hypophosphatemia, Rickets	OMIM:134600
Hypophosphatasia, Adult	Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Chondrocalcino...	OMIM:146300
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol...	ORPHA:93160
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hypokalemia	OMIM:611590
Liddle Syndrome	Hypokalemia, Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Increased serum bile acid concentration	OMIM:607748
Cystinosis	Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets, Failure to thrive, Portal hyper...	ORPHA:213
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Hypokalemia, Glucose intolerance, Purpura, Hypertension, Bruising sus...	OMIM:219090
Liddle Syndrome 3	Hypokalemia, Hypertension	OMIM:618126
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Osteolysi...	ORPHA:464329
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypophosphatemia, Large for gestational age, Rickets, Diabetes mellitus, Hypoglycemia...	OMIM:616026
Glycogen Storage Disease Vi	Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in...	OMIM:232700
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S...	ORPHA:101016
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab...	OMIM:600785
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia	OMIM:109130
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Hemorrhagic Fever-Renal Syndrome	Hypotension, Hyperphosphatemia, Decreased body weight, Petechiae, Hyperkalemia, Intracranial hemo...	ORPHA:340
Disorder Of Bile Acid Synthesis	Rickets, Abnormal bleeding	ORPHA:79168
Marburg Hemorrhagic Fever	Hypotension, Elevated circulating creatine kinase concentration, Pericarditis, Shock, Hypoglycemi...	ORPHA:99826
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure...	OMIM:600081
Fanconi Renotubular Syndrome 2	Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Rickets, Osteopenia	OMIM:613388
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Impaired myocardial contractility, Postprandial hyperglycemia, Mildly eleva...	ORPHA:681
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension	OMIM:605635
Hyperkalemic Periodic Paralysis	Flexion contracture, Hypokalemia, Hyperkalemia, Congestive heart failure, Elevated circulating cr...	ORPHA:682
Fanconi-Bickel Syndrome	Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Rickets, Failure to thrive, Diabetes me...	ORPHA:2088
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Palpitations, Tachycardia, Weight loss	OMIM:188580
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia	ORPHA:89937
Cholestasis, Progressive Familial Intrahepatic, 1	Rickets, Failure to thrive, Epistaxis, Osteopenia, Conjugated hyperbilirubinemia	OMIM:211600
Dermatosparaxis Ehlers-Danlos Syndrome	Hernia, Osteomalacia, Abnormality of subcutaneous fat tissue, Scarring, Rickets, Inguinal hernia,...	ORPHA:1901
Familial Exudative Vitreoretinopathy	Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage, Reduced bone mineral den...	ORPHA:891
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Tachycardia, Abn...	ORPHA:99827
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Apparent Mineralocorticoid Excess	Small for gestational age, Decreased circulating renin level, Hypokalemia, Hypertension, Failure ...	OMIM:218030
Lujo Hemorrhagic Fever	Hypotension, Myocarditis, Stiff neck, Purpura, Ecchymosis, Shock, Elevated circulating C-reactive...	ORPHA:319213
Fanconi Renotubular Syndrome 3	Rickets, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem...	OMIM:241530
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Vasculitis in the skin, Failure to thrive, Elevated circulating C-reactive protein co...	OMIM:617718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabecula...	OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ...	ORPHA:157215
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage	OMIM:193235
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300554
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypopho...	ORPHA:289157
Familial Hyperaldosteronism Type I	Epistaxis, Hypokalemia, Intracranial hemorrhage, Hypertension	ORPHA:403
Primary Fanconi Renotubular Syndrome	Increased susceptibility to fractures, Weight loss, Osteomalacia, Glycosuria, Hypophosphatemia, D...	ORPHA:3337
Familial Hyperaldosteronism Type Ii	Epistaxis, Hypokalemia, Intracranial hemorrhage, Hypertension	ORPHA:404
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Colchicine Poisoning	Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail...	ORPHA:31824
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul...	OMIM:241150
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Flexion contracture, Small for gestational age, Elevated circulating creatine...	OMIM:615368
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabecula...	OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Enamel hypomineralization, Osteomalacia, Hypophosphat...	OMIM:307800
Hyperchlorhidrosis, Isolated	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:143860
Familial Hyperaldosteronism Type Iii	Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval	ORPHA:251274
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Decreased circulating renin level, Hypokalemia, Intracranial hemorrhage, Hyperte...	ORPHA:231625
Dent Disease 1	Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Sparse bone tr...	OMIM:300009
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Failure to thrive, Type I diabetes mellitus, Osteoporosis	OMIM:560000
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia, Hypertension	OMIM:618114
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Cachexia, Hematochezia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Congenital Isolated Acth Deficiency	Hypotension, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia	ORPHA:199296
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Osteomalacia, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:600740
Exudative Vitreoretinopathy 1	Retinal neovascularization, Vitreous hemorrhage, Recurrent fractures	OMIM:133780
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Cholera	Hypotension, Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hypovolemic shock, Hypo...	ORPHA:173
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Osteootohepatoenteric Syndrome	Recurrent fractures, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile acid conce...	OMIM:619377
Infantile Nephropathic Cystinosis	Glycosuria, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Rickets, Failure to ...	ORPHA:411629
Eales Disease	Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz...	ORPHA:40923
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Hypoadrenocorticism, Familial	Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:240200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Pulmonary arterial hypertension, Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, S...	ORPHA:369929
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Hypertension	OMIM:611489
Rabson-Mendenhall Syndrome	Increased C-peptide level, Impaired glucose tolerance, Diabetic ketoacidosis, Reduced subcutaneou...	ORPHA:769
Gitelman Syndrome	Palpitations, Chondrocalcinosis, Glucose intolerance, Type II diabetes mellitus, Low-to-normal bl...	ORPHA:358
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia, Hypertension	OMIM:177200
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Hypertension, Epistaxis, Palpitations	ORPHA:231580
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Epistaxis, Hypertension	ORPHA:231632
Infantile Systemic Hyalinosis	Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia...	ORPHA:2176
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia	OMIM:203400
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypophosphatemia, Rickets, Osteolysis, Cortical irregularity, Dia...	ORPHA:249
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Impaired myocardial contractility, Weight loss, Transient hypophosphatemia,...	ORPHA:79102
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Low-to-normal blood pre...	OMIM:601678
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension, Abnormal dental enamel morphology	ORPHA:757
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Orthostatic hyp...	OMIM:610600
Congenital Bile Acid Synthesis Defect Type 2	Abnormal serum bile acid concentration, Hyperbilirubinemia, Rickets, Failure to thrive, Prolonged...	ORPHA:79303
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon, Elevated circulating creatin...	OMIM:611773
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:614736
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Adrenocortical Carcinoma	Weight loss, Hypokalemia, Hypertension, Diabetes mellitus, Palpitations, Increased body weight	ORPHA:1501
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive, Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Hepatocellular Carcinoma	Hypotension, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Internal he...	ORPHA:88673
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypertension, Osteopenia, Hyponatremia, Hypocalcemia	OMIM:617913
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Weight loss, Hyperkalemia, Increased circulating renin level, Arrhythmia, Hypovole...	ORPHA:171876
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Weight loss, Type I diabetes mellitus, Rickets, Failure to thrive, Prolonged p...	OMIM:212750
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypocalcemic tetany, Rickets of the lower limbs, Enthesitis, Increased bo...	ORPHA:289176
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,...	OMIM:145600
Vitreoretinochoroidopathy	Retinal neovascularization, Vitreous hemorrhage	OMIM:193220
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:214700
Late-Onset Isolated Acth Deficiency	Hypotension, Generalized bone demineralization, Hyperuricemia, Weight loss, Hyperkalemia, Type I ...	ORPHA:199299
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Hypertension, Elevated circulating al...	OMIM:613095
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Or...	ORPHA:556037
Gitelman Syndrome	Hypotension, Hypokalemia, Increased circulating renin level, Failure to thrive, Prolonged QT inte...	OMIM:263800
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia, Hypertension	OMIM:613677
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypovolemia, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, H...	ORPHA:411634
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Hypermagnesemia, Lipoma, Hypercalcemia, Hypocalcemic seizures, Chondrocalcinosis, R...	ORPHA:405
Retinoblastoma	Hyphema, Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Cellulitis	ORPHA:790
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Hypokalemia, Prominent U wave, Syncope, Joint laxity, Prolonged QT interval, P...	OMIM:170390
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia	OMIM:177735
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Failure to thrive, Hypokalemia, Hypertension	ORPHA:320
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Osteomalacia, Hypokalemia, Rickets, Failure to thrive, Red...	ORPHA:18
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:264350
Dent Disease	Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Sparse bone trabeculae, Elevated...	ORPHA:1652
Hypophosphatemic Rickets	Osteomalacia, Enthesitis, Hypophosphatemia, Odontodysplasia, Rickets, Failure to thrive, Craniofa...	ORPHA:437
Mercury Poisoning	Hypotension, Tachycardia, Hypokalemia, Hypertension	ORPHA:330021
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Scorpion Envenomation	Myocarditis, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Purpura, Congest...	ORPHA:466677
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Or...	ORPHA:556030
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension	OMIM:145260
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Hypertension, Se...	OMIM:615474
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Glycosuria, Recurrent fractures	OMIM:268315
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Hypovolemia, Glycosuria, Hypokalemia, Failure to thrive, Bicarbonaturi...	ORPHA:47159
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Leptospirosis	Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Hyperproteinemia...	ORPHA:509
X-Linked Hypophosphatemia	Vertebral hyperostosis, Cellulitis, Enthesitis, Arthritis, Hypophosphatemia, Odontodysplasia, Gen...	ORPHA:89936
Mirage Syndrome	Radial club hand, Decreased body weight, Petechiae, Hyperkalemia, Intracranial hemorrhage, Hypogl...	OMIM:617053
Leprechaunism	Hyperinsulinemia, Decreased body weight, Reduced subcutaneous adipose tissue, Hypokalemia, Insuli...	ORPHA:508
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi...	OMIM:219800
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Low-to-normal blood pre...	OMIM:241200
East Syndrome	Hypokalemia, Hypomagnesemia, Increased circulating renin level	ORPHA:199343
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Juvenile Polyposis Syndrome	Failure to thrive, Hypokalemia, Hematochezia, Hypoalbuminemia	OMIM:174900
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:613090
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, Small for gestational age, Unconjugated hyperbilirubinemia, Joint laxity, Ricke...	OMIM:613658
Pseudoxanthoma Elasticum	Sudden cardiac death, Multiple lipomas, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pe...	ORPHA:758
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin...	OMIM:264800
Vipoma	Weight loss, Hypokalemia, Diabetes mellitus, Hypercalcemia, Hematochezia, Subcutaneous lipoma	ORPHA:97282
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Mccune-Albright Syndrome	Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal bone cyst, Hypophosph...	ORPHA:562
Tsh-Secreting Pituitary Adenoma	Hypotension, Weight loss, Ventricular arrhythmia, Hypokalemia, Supraventricular arrhythmia, Conge...	ORPHA:91347
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal bleeding, Palpitations, ...	ORPHA:86839
Familial Hypoaldosteronism	Hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyp...	ORPHA:427
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Familial Glucocorticoid Deficiency	Hypotension, Weight loss, Ketotic hypoglycemia, Hyperkalemia, Failure to thrive, Hypertrophic car...	ORPHA:361
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614492
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension, Hypokalemia, Hypomagnesemia, Increased circulating renin level	OMIM:612780
Addison Disease	Hypotension, Generalized bone demineralization, Hyperuricemia, Weight loss, Hyperkalemia, Increas...	ORPHA:85138
Oculocerebrorenal Syndrome Of Lowe	Hypercholesterolemia, Recurrent fractures, Osteomalacia, Arthritis, Hypophosphatemia, Hypokalemia...	ORPHA:534
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypertension, Hypokalemia, Intracranial hemorrhage	ORPHA:90795
Wilson Disease	Osteomalacia, Glycosuria, Decreased circulating ceruloplasmin concentration, Increased circulatin...	OMIM:277900
Acute Adrenal Insufficiency	Hypotension, Hyperuricemia, Hypovolemia, Weight loss, Hyperkalemia, Increased circulating renin l...	ORPHA:95409
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension	OMIM:607364
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Nelson Syndrome	Hypertension, Hypokalemia, Intracranial hemorrhage, Type II diabetes mellitus	ORPHA:199244
Bartter Syndrome Type 4	Small for gestational age, Hypokalemia, Increased circulating renin level, Hypertension, Failure ...	ORPHA:89938
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi...	OMIM:192315
Pearson Syndrome	Hyperalaninemia, Small for gestational age, Glycosuria, Hypophosphatemia, Hypokalemia, Diabetes m...	ORPHA:699
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased...	ORPHA:168558
Nephronophthisis 2	Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia, Hypertension	OMIM:602088
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Generalized joint laxity, Abnormal subcutaneous fat tissue distribution, Abnormal circulating apo...	ORPHA:357074
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased...	ORPHA:289548
Idiopathic Aplastic Anemia	Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis	ORPHA:88
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Hypertension, Myocardial infarction, Hyponatremia, ...	ORPHA:90038
Neu-Laxova Syndrome	Flexion contracture, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposis multiplex co...	ORPHA:2671
Occipital Horn Syndrome	Keloids, Osteomalacia, Scarring, Synostosis of joints, Bruising susceptibility, Rickets, Inguinal...	ORPHA:198
Renal Hypoplasia, Bilateral	Small for gestational age, Glycosuria, Hyperkalemia, Hypertension, Failure to thrive, Hyponatremia	ORPHA:97362
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypertension, Hypoglycemia	ORPHA:786
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteoporosis, Weight loss, Osteomalacia	ORPHA:309031
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont...	OMIM:309000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Failure to thrive, Hypokalemia, Hypertension	ORPHA:90793
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Neuroleptic Malignant Syndrome	Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Hypertension, El...	ORPHA:94093
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Arrhythmia, Hypocalcemia	ORPHA:99845
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage	OMIM:177850
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Phacoanaphylactic Uveitis	Retinal arteritis, Hyphema	ORPHA:209959
Incontinentia Pigmenti	Camptodactyly of finger, Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, ...	ORPHA:464
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Failure to t...	ORPHA:90791
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Third degree atrioventricular block, Small for gestational age, ...	OMIM:619573
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:602522
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, B...	OMIM:614653
Waldenström Macroglobulinemia	Retinal hemorrhage, Purpura, Congestive heart failure, Epistaxis, Gingival bleeding, Gastrointest...	ORPHA:33226
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia, Retinal hemorrhage, Subdural hemorrhage	ORPHA:25
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Failure to thrive in infancy, Hypertension, Hyp...	OMIM:617595
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Hyperkalemia, Hyponatremia	ORPHA:90790
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Supraventricular tachycardia, Hyperkalemia, Elevated creatine kinase after exe...	ORPHA:423
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Hyphema, Camptodactyly, Failure to thrive, Right unicoronal synostosis, Aort...	ORPHA:261552
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia, Hypertension	OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Failure to thrive, Hypokalemia, Hyponatremia	OMIM:618426
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss	OMIM:608710
Ethylene Glycol Poisoning	Hypotension, Hyperkalemia, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, ...	ORPHA:31826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Hyperkalemia, Failure to thrive, Recurrent hypoglycemia, Hyponatremia	ORPHA:293978
Familial Drusen	Macular hemorrhage	ORPHA:75376
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Hypokalemia, Osteoarthritis, Telangiectasia of the skin, Abnormal blee...	ORPHA:286
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Weight loss, Elevated circulating C-reactive protein concentration, Choriore...	ORPHA:91500
Rift Valley Fever	Retinal hemorrhage, Abnormal bleeding, Gingival bleeding, Hematemesis, Melena	ORPHA:319251
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Weight loss, Osteomalacia, Arthritis, Vasculitis in the skin, Elevated circulating...	OMIM:619381
Lysosomal Acid Lipase Deficiency	Hypotension, Pulmonary arterial hypertension, Hypovolemia, Weight loss, Cachexia, Hyperkalemia, F...	ORPHA:275761
Retinoblastoma	Vitreous hemorrhage	OMIM:180200
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal T-wave, Hyperphosphatemia, Sinus tachycardia, Abnormal pulse pressure, ST s...	ORPHA:466650
Cockayne Syndrome	Enamel hypoplasia, Retinal hemorrhage, Contractures of the large joints, Hyperuricemia, Reduced s...	ORPHA:191
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hyperkalemia, Hypertension, Hypertensive crisis, Diabetes mellitus, Hyponatremi...	ORPHA:544482
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Retinal hemorrhage, Osteomalacia, Transient ischemic attack, Fus...	ORPHA:51608
Cockayne Syndrome Type 3	Retinal hemorrhage, Enamel hypoplasia, Flexion contracture, Subdural hemorrhage, Increased blood ...	ORPHA:90324
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis	ORPHA:2636
Incontinentia Pigmenti	Retinal hemorrhage, Scarring	OMIM:308300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Hypovolemia, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Shock, Failure to thr...	ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Humeroradial synostosis, Small for gestational age, Decreased circ...	OMIM:201750
Trichinellosis	Retinal hemorrhage	ORPHA:863
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Pierson Syndrome	Retinal hemorrhage, Hypoproteinemia, Hypertension	OMIM:609049
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperkalemia, Hyperlipidemia, Hyponatremia, Hyperglycemia, Obesity	ORPHA:293987
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Corneal neovascularization, Elevated ci...	OMIM:175780

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.

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MGI Allele	Allele Type	Produced
Ablim1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ablim1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ablim1^tm1H	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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