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Gene: Lonrf2 MGI:1920209

Gene Summary

Name:

LON peptidase N-terminal domain and ring finger 2

Synonyms:

2900060P06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
increased blood urea nitrogen level	Lonrf2^em2(IMPC)H	HOM	Early adult	2.17×10^-15
increased circulating creatinine level	Lonrf2^em2(IMPC)H	HOM	Early adult	8.76×10^-05
decreased circulating total protein level	Lonrf2^em2(IMPC)H	HOM	Early adult	3.45×10^-05
increased circulating creatinine level	Lonrf2^em2(IMPC)H	HOM	Late adult	1.62×10^-05
impaired glucose tolerance	Lonrf2^em2(IMPC)H	HOM	Late adult	1.42×10^-05
increased fasting circulating glucose level	Lonrf2^em2(IMPC)H	HOM	Late adult	5.60×10^-05
increased circulating calcium level	Lonrf2^em2(IMPC)H	HOM	Late adult	1.11×10^-05

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 Lonrf2 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 Lonrf2 (0 diseases)
Human diseases predicted to be associated with Lonrf2 (317 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lonrf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Adamantinoma	Hypercalcemia	ORPHA:55881
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Blue Diaper Syndrome	Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia	ORPHA:94086
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication	ORPHA:147
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus	OMIM:612526
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Hypoglycemia	ORPHA:163693
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus	OMIM:222100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Dengue Fever	Hypoproteinemia	ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level	OMIM:618856
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia	OMIM:614111
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypophosphatasia	Hypercalcemia	ORPHA:436
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hyperlipoproteinemia, Type V	Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea...	OMIM:144650
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern...	ORPHA:99886
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hypercalcemia	ORPHA:199299
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hypoglycemia	ORPHA:664
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance	ORPHA:75563
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Elevated transferrin saturatio...	OMIM:606069
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Monosomy 13Q34	Insulin resistance, Hypercalcemia	ORPHA:96168
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Acute Adrenal Insufficiency	Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating ren...	ORPHA:95409
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Hypotonia-Cystinuria Syndrome	Cystinuria, Neonatal hypoglycemia, Hypocalcemia	OMIM:606407
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Preeclampsia	Elevated circulating creatinine concentration, Type I diabetes mellitus	ORPHA:275555
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Hypoglycemia	OMIM:131100
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia,...	ORPHA:85138
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria	ORPHA:2089
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Timothy Syndrome	Hypocalcemia, Hypoglycemia	OMIM:601005
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia, Diabetes mellitus	ORPHA:249
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Hypocalce...	ORPHA:411634
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased...	OMIM:608836
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Liver Disease, Severe Congenital	Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy...	OMIM:619991
Pheochromocytoma	Hypercalcemia	OMIM:171300
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Vipoma	Hypokalemia, Hypercalcemia, Diabetes mellitus	ORPHA:97282
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Somatostatinoma	Hypercalcemia, Diabetes mellitus	ORPHA:97283
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Multiple Endocrine Neoplasia Type 4	Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia	ORPHA:276152
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:137920
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria	OMIM:264700
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Glucagonoma	Hypercalcemia, Diabetes mellitus	ORPHA:97280
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Zollinger-Ellison Syndrome	Hypercalcemia, Increased glucagon level	ORPHA:913
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,...	ORPHA:2298
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Hypoglycemia	OMIM:607143
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra...	ORPHA:85450
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Hypocalcemia	ORPHA:746
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Ppoma	Hypercalcemia	ORPHA:97278
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Hypocalcemia	OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr...	ORPHA:37042
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia	ORPHA:2237
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria	ORPHA:289157
Gitelman Syndrome	Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc...	ORPHA:358
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Grfoma	Hypercalcemia	ORPHA:97261
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Williams Syndrome	Hypercalcemia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Elevated circ...	ORPHA:904
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Mitchell-Riley Syndrome	Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus	OMIM:615710
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Pearson Syndrome	Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Diabete...	ORPHA:699
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Williams-Beuren Syndrome	Hypercalcemia, Glucose intolerance, Diabetes mellitus	OMIM:194050
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy...	ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia	ORPHA:544482
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Sarcoidosis	Hypercalcemia	ORPHA:797
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia	OMIM:613658
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Sotos Syndrome	Neonatal hypoglycemia, Hypercalcemia	ORPHA:821
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Leptospirosis	Hyperproteinemia	ORPHA:509
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Johanson-Blizzard Syndrome	Diabetes mellitus, Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concen...	OMIM:243800
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Charge Syndrome	Hypocalcemia	OMIM:214800

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 Lonrf2

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 Lonrf2.

No publications found that use IMPC mice or data for Lonrf2.

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
Lonrf2^{tm44982(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lonrf2^em2(IMPC)H	Exon Deletion	Mice
Lonrf2^{tm44982(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lonrf2^em1(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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