Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Fbp1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia | ORPHA:348 | |
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia | OMIM:229700 |
The table below shows human diseases predicted to be associated to Fbp1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency | Hypoglycemia | ORPHA:35701 | |
Hyperinsulinemic Hypoglycemia, Familial, 7 | Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia | OMIM:610021 | |
Glycogen Storage Disease 0, Liver | Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia | OMIM:240600 | |
Maturity-Onset Diabetes Of The Young, Type 3 | Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young | OMIM:600496 | |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone | Hypoglycemia | OMIM:223500 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia | ORPHA:293964 | |
Hyperinsulinism Due To Insr Deficiency | Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... | ORPHA:263458 | |
Fructose And Galactose Intolerance | Hypoglycemia | OMIM:229500 | |
Hyperproinsulinemia | Hyperglycemia, Hyperinsulinemia | OMIM:616214 | |
Hyperinsulinemic Hypoglycemia, Familial, 2 | Hyperinsulinemic hypoglycemia, Hypoglycemia | OMIM:601820 | |
Hyperinsulinemic Hypoglycemia, Familial, 3 | Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia | OMIM:602485 | |
Short Stature Due To Partial Ghr Deficiency | Hypoglycemia | ORPHA:314802 | |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | Impaired gluconeogenesis, Hypoglycemia | OMIM:261650 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis | OMIM:613370 | |
Congenital Glucokinase-Related Hyperinsulinism | Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... | ORPHA:79299 | |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency | Hypoglycemia | ORPHA:366 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia | OMIM:240900 | |
Insulin Autoimmune Syndrome | Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... | ORPHA:411593 | |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoglycemia | OMIM:609016 | |
Hypoglycemia, Leucine-Induced | Hyperinsulinemic hypoglycemia, Hypoglycemia | OMIM:240800 | |
Pituitary Hormone Deficiency, Combined, 4 | Hypoglycemia | OMIM:262700 | |
Short Stature Due To Ghsr Deficiency | Hypoglycemia | ORPHA:314811 | |
Isolated Growth Hormone Deficiency, Type Ia | Hypoglycemia | OMIM:262400 | |
Dicarboxylic Aminoaciduria | Fasting hypoglycemia | OMIM:222730 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 | Hypoglycemia | OMIM:615158 | |
Orthostatic Hypotension 2 | Hypoglycemia | OMIM:618182 | |
3-Methylglutaconic Aciduria Type 1 | Hypoglycemia | ORPHA:67046 | |
Hyperinsulinism Due To Hnf1A Deficiency | Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... | ORPHA:324575 | |
Monocarboxylate Transporter 1 Deficiency | Ketotic hypoglycemia | OMIM:616095 | |
Hyperinsulinism-Hyperammonemia Syndrome | Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia | ORPHA:35878 | |
Homozygous 11P15-P14 Deletion Syndrome | Hyperinsulinemia, Hypoglycemia | OMIM:606528 | |
Glycogen Storage Disease Vi | Hypoglycemia | OMIM:232700 | |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities | Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... | OMIM:262190 | |
Neonatal Hemochromatosis | Hypoglycemia | ORPHA:446 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia,... | ORPHA:276608 | |
Hyperinsulinemic Hypoglycemia, Familial, 8 | Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia | OMIM:620211 | |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency | Fasting hypoglycemia | ORPHA:171706 | |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | Hypoglycemia | OMIM:610090 | |
Diarrhea 13 | Recurrent hypoglycemia | OMIM:620357 | |
Ornithine Transcarbamylase Deficiency | Hypoglycemia | ORPHA:664 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ... | ORPHA:276580 | |
Propionic Acidemia | Hypoglycemia | ORPHA:35 | |
3-Methylcrotonyl-Coa Carboxylase Deficiency | Hypoglycemia | ORPHA:6 | |
Endocardial Fibroelastosis | Hypoglycemia | ORPHA:2022 | |
Isobutyryl-Coa Dehydrogenase Deficiency | Ketotic hypoglycemia | ORPHA:79159 | |
Hyperinsulinism Due To Ucp2 Deficiency | Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly... | ORPHA:276556 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 | Hypoglycemia | OMIM:616111 | |
Riboflavin Deficiency | Hypoglycemia | OMIM:615026 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycem... | ORPHA:276575 | |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay | Recurrent hypoglycemia | OMIM:618158 | |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 | Neonatal hypoglycemia, Hypoglycemia | ORPHA:231140 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 | Hypoglycemia | ORPHA:231147 | |
Glucocorticoid Deficiency 3 | Recurrent hypoglycemia | OMIM:609197 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypoglycemia | OMIM:610006 | |
3-Methylglutaconic Aciduria Type 4 | Hypoglycemia | ORPHA:67048 | |
Mitochondrial Pyruvate Carrier Deficiency | Hypoglycemia | OMIM:614741 | |
Diabetes Mellitus, Permanent Neonatal, 4 | Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis | OMIM:618858 | |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency | Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria | ORPHA:2089 | |
Mehmo Syndrome | Hypoglycemia | OMIM:300148 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency | Hypoglycemia | ORPHA:364 | |
Diabetes Mellitus, Transient Neonatal, 3 | Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes | OMIM:610582 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 | Hypoglycemia | OMIM:620137 | |
Dihydrolipoamide Dehydrogenase Deficiency | Hypoglycemia | OMIM:246900 | |
Hsd10 Mitochondrial Disease | Hypoglycemia | OMIM:300438 | |
Short Chain Acyl-Coa Dehydrogenase Deficiency | Ketotic hypoglycemia | ORPHA:26792 | |
2P21 Microdeletion Syndrome | Hypoglycemia | ORPHA:163693 | |
Glycogen Storage Disease Iii | Hypoglycemia | OMIM:232400 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 | Hypoglycemia | OMIM:619048 | |
Glycogen Storage Disease Ixb | Hypoglycemia | OMIM:261750 | |
Combined Oxidative Phosphorylation Deficiency 34 | Hypoglycemia | OMIM:617872 | |
Hemochromatosis, Neonatal | Hypoglycemia | OMIM:231100 | |
Mitochondrial Complex I Deficiency, Nuclear Type 19 | Hypoglycemia | OMIM:618241 | |
Mody | Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... | ORPHA:552 | |
Combined Malonic And Methylmalonic Acidemia | Hypoglycemia | ORPHA:289504 | |
Combined Oxidative Phosphorylation Deficiency 36 | Hypoglycemia | OMIM:617950 | |
Insulinoma | Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Nonket... | ORPHA:97279 | |
Acth Deficiency, Isolated | Fasting hypoglycemia | OMIM:201400 | |
Pyridoxine-Dependent Epilepsy | Hypoglycemia | ORPHA:3006 | |
Glycogen Storage Disease Ixa1 | Hypoglycemia | OMIM:306000 | |
Pyruvate Carboxylase Deficiency | Hypoglycemia | OMIM:266150 | |
Combined Oxidative Phosphorylation Deficiency 47 | Hypoglycemia | OMIM:618958 | |
Histidinuria-Renal Tubular Defect Syndrome | Hypoglycemia | ORPHA:2158 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Hypoglycemia | ORPHA:48431 | |
Congenital Isolated Acth Deficiency | Hypoglycemic seizures, Neonatal hypoglycemia | ORPHA:199296 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 | Hypoglycemia | OMIM:615160 | |
Combined Oxidative Phosphorylation Deficiency 52 | Hypoglycemia | OMIM:619386 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 | Hypoglycemia | OMIM:618120 | |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency | Hypoglycemia | OMIM:201910 | |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia | OMIM:261680 | |
Hypoadrenocorticism, Familial | Hypoglycemia | OMIM:240200 | |
Glycogen Storage Disease Ixc | Hypoglycemia, Fasting hypoglycemia | OMIM:613027 | |
Proprotein Convertase 1/3 Deficiency | Hypoinsulinemia, Reactive hypoglycemia | OMIM:600955 | |
Blue Diaper Syndrome | Increased proinsulin:insulin ratio, Recurrent hypoglycemia | ORPHA:94086 | |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency | Hypoglycemia | ORPHA:369 | |
Infantile Liver Failure Syndrome 2 | Hypoglycemia | OMIM:616483 | |
Combined Oxidative Phosphorylation Deficiency 41 | Hypoglycemia | OMIM:618838 | |
Non-Acquired Isolated Growth Hormone Deficiency | Neonatal hypoglycemia | ORPHA:631 | |
Silver-Russell Syndrome 2 | Neonatal hypoglycemia | OMIM:618905 | |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication | Hypoglycemia | ORPHA:231137 | |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency | Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia | ORPHA:79644 | |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoketotic hypoglycemia, Hypoglycemia | ORPHA:5 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hy... | ORPHA:263455 | |
Malonyl-Coa Decarboxylase Deficiency | Hypoglycemia | OMIM:248360 | |
Glycogen Storage Disease Ixd | Hypoglycemia | OMIM:300559 | |
Glucocorticoid Resistance, Generalized | Hypoglycemia | OMIM:615962 | |
Temple Syndrome | Type II diabetes mellitus, Recurrent hypoglycemia | ORPHA:254516 | |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome | Hypoglycemia | OMIM:614739 | |
Combined Oxidative Phosphorylation Deficiency 10 | Hypoglycemia | OMIM:614702 | |
Pyruvate Dehydrogenase E3 Deficiency | Hypoglycemia | ORPHA:2394 | |
Laron Syndrome | Hypoglycemia | ORPHA:633 | |
Polyendocrine-Polyneuropathy Syndrome | Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia | ORPHA:453533 | |
Pituitary Hormone Deficiency, Combined, 6 | Neonatal hypoglycemia, Hypoglycemia | OMIM:613986 | |
Glucocorticoid Deficiency 2 | Hypoglycemia, Recurrent hypoglycemia | OMIM:607398 | |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoglycemic seizures, Hypoketotic hypoglycemia | OMIM:231530 | |
Pituitary Hormone Deficiency, Combined, 2 | Hypoglycemic seizures, Neonatal hypoglycemia | OMIM:262600 | |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young | Diabetes mellitus, Glycosuria, Hypoglycemia | OMIM:616026 | |
Pyridoxal Phosphate-Responsive Seizures | Hypoglycemia | ORPHA:79096 | |
Carnitine Palmitoyl Transferase 1A Deficiency | Hypoglycemia | ORPHA:156 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypoglycemia | OMIM:245400 | |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile | Hypoketotic hypoglycemia | OMIM:600649 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Hypoglycemia | ORPHA:35708 | |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome | Diabetes mellitus, Hypoglycemia | ORPHA:391408 | |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome | Fasting hypoglycemia | ORPHA:436174 | |
Galactokinase Deficiency | Hyperinsulinemia, Hypoglycemia | ORPHA:79237 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 | Hyperglycemia, Hypoglycemia | OMIM:615453 | |
Classic Galactosemia | Hypoglycemia | ORPHA:79239 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Hypoglycemia | ORPHA:42 | |
Mitochondrial Complex I Deficiency, Nuclear Type 33 | Hypoglycemia | OMIM:618253 | |
Houge-Janssens Syndrome 1 | Hypoglycemia | OMIM:616355 | |
Polyendocrine-Polyneuropathy Syndrome | Type I diabetes mellitus, Hypoglycemia | OMIM:616113 | |
Post-Traumatic Pituitary Deficiency | Hypoglycemia | ORPHA:95619 | |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures | Hypoglycemia | OMIM:617710 | |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency | Hypoglycemia | OMIM:614736 | |
Solitary Fibrous Tumor | Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia | ORPHA:2126 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Insulin resistance, Hypoglycemia | ORPHA:73272 | |
Aica-Ribosiduria Due To Atic Deficiency | Hypoglycemia | OMIM:608688 | |
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia | ORPHA:348 | |
Cog8-Cdg | Hypoglycemia | ORPHA:95428 | |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of | Hypoglycemia | OMIM:201450 | |
Carnitine-Acylcarnitine Translocase Deficiency | Neonatal hypoglycemia, Hypoglycemia | OMIM:212138 | |
Hsd10 Disease, Infantile Type | Hypoglycemia | ORPHA:391428 | |
Insulin-Resistance Syndrome Type B | Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... | ORPHA:2298 | |
Donohue Syndrome | Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia | OMIM:246200 | |
Maple Syrup Urine Disease, Type Ia | Hypoglycemia | OMIM:248600 | |
Carnitine Deficiency, Systemic Primary | Impaired gluconeogenesis, Recurrent hypoglycemia | OMIM:212140 | |
Glucocorticoid Deficiency 1 | Recurrent hypoglycemia | OMIM:202200 | |
Timothy Syndrome | Hypoglycemia | OMIM:601005 | |
Propionic Acidemia | Hypoglycemia | OMIM:606054 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 | Neonatal hypoglycemia | OMIM:619046 | |
Combined Oxidative Phosphorylation Deficiency 40 | Hypoglycemia | OMIM:618835 | |
Combined Oxidative Phosphorylation Deficiency 42 | Hypoglycemia | OMIM:618839 | |
Smith-Kingsmore Syndrome | Hypoglycemia | OMIM:616638 | |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | Hypoglycemia | OMIM:210200 | |
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia | OMIM:229700 | |
Fanconi-Bickel Syndrome | Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Impaired glucose... | ORPHA:2088 | |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 | Recurrent hypoglycemia | OMIM:616817 | |
Bachmann-Bupp Syndrome | Hypoglycemia | OMIM:619075 | |
Long-Olsen-Distelmaier Syndrome | Hypoglycemia | OMIM:620609 | |
Mitochondrial Complex I Deficiency, Nuclear Type 20 | Hypoglycemia | OMIM:611126 | |
Hypotonia-Cystinuria Syndrome | Neonatal hypoglycemia | OMIM:606407 | |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency | Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic s... | ORPHA:71212 | |
Immunodeficiency, Common Variable, 10 | Hypoglycemia | OMIM:615577 | |
Cholestasis, Progressive Familial Intrahepatic, 5 | Hypoglycemia | OMIM:617049 | |
Basilicata-Akhtar Syndrome | Neonatal hypoglycemia | OMIM:301032 | |
Reni Syndrome | Hypoglycemia | OMIM:617575 | |
Silver-Russell Syndrome Due To A Point Mutation | Hypoglycemia | ORPHA:397590 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 | Hypoglycemia | OMIM:620275 | |
Silver-Russell Syndrome 1 | Fasting hypoglycemia | OMIM:180860 | |
Shashi-Pena Syndrome | Hypoglycemia | OMIM:617190 | |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency | Hypoglycemia | OMIM:605911 | |
Tenorio Syndrome | Hypoinsulinemia, Hypoglycemia | OMIM:616260 | |
Intellectual Developmental Disorder, Autosomal Dominant 45 | Neonatal hypoglycemia | OMIM:617600 | |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency | Hypoglycemia | OMIM:251000 | |
Immunodeficiency 10 | Hypoglycemia | OMIM:612783 | |
Mitochondrial Trifunctional Protein Deficiency 2 | Hypoglycemia | OMIM:620300 | |
Pituitary Stalk Interruption Syndrome | Hypoglycemia | ORPHA:95496 | |
Glutaric Acidemia I | Hypoglycemia | OMIM:231670 | |
D-Glyceric Aciduria | Hypoglycemia | OMIM:220120 | |
Dopamine Beta-Hydroxylase Deficiency | Insulin resistance, Hyperinsulinemia, Hypoglycemia | ORPHA:230 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Glycosuria, Hypoglycemia | OMIM:231680 | |
Beta-Ketothiolase Deficiency | Hyperglycemia, Hypoglycemia | ORPHA:134 | |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal | Nonketotic hypoglycemia, Hypoglycemia | OMIM:608836 | |
Congenital Disorder Of Glycosylation, Type Ig | Hypoglycemia | OMIM:607143 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Hypoglycemia | ORPHA:26791 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 | Neonatal hypoglycemia, Hypoglycemia | OMIM:619055 | |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome | Hypoglycemic seizures, Hypoglycemia | ORPHA:480864 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypoketotic hypoglycemia, Fasting hypoglycemia | ORPHA:159 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 | Hypoglycemia | OMIM:619355 | |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency | Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia | ORPHA:79240 | |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome | Hypoglycemia | ORPHA:457279 | |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency | Hypoglycemia, Fasting hypoglycemia | ORPHA:264580 | |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome | Neonatal hypoglycemia | ORPHA:457485 | |
Combined Oxidative Phosphorylation Deficiency 59 | Ketotic hypoglycemia | OMIM:620646 | |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of | Nonketotic hypoglycemia | OMIM:201475 | |
Glycogen Storage Disease Ia | Hypoglycemia, Fasting hypoglycemia | OMIM:232200 | |
Pancreatic And Cerebellar Agenesis | Hyperglycemia, Diabetes mellitus, Hypoglycemia | OMIM:609069 | |
Rabson-Mendenhall Syndrome | Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... | ORPHA:769 | |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia | Neonatal hypoglycemia | OMIM:608624 | |
Mirage Syndrome | Hypoglycemia | OMIM:617053 | |
Methylmalonic Aciduria, Cblb Type | Hypoglycemia | OMIM:251110 | |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form | Hypoketotic hypoglycemia | ORPHA:228305 | |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures | Hypoglycemia | OMIM:620224 | |
Carnitine Palmitoyltransferase I Deficiency | Hypoketotic hypoglycemia | OMIM:255120 | |
Combined Oxidative Phosphorylation Defect Type 39 | Neonatal hypoglycemia | ORPHA:565624 | |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy | Hypoglycemia | OMIM:617093 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Hypoglycemia | OMIM:246450 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypoglycemia | OMIM:618329 | |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency | Hypoglycemia | OMIM:210210 | |
Congenital Disorder Of Glycosylation, Type Iie | Hypoglycemia | OMIM:608779 | |
Congenital Disorder Of Glycosylation, Type Iiaa | Hypoglycemia | OMIM:620454 | |
Combined Oxidative Phosphorylation Deficiency 58 | Hypoglycemia | OMIM:620451 | |
Isolated Complex I Deficiency | Diabetes mellitus, Hypoglycemia | ORPHA:2609 | |
Late-Onset Isolated Acth Deficiency | Type I diabetes mellitus, Hypoglycemia | ORPHA:199299 | |
Sotos Syndrome | Neonatal hypoglycemia, Glucose intolerance | OMIM:117550 | |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 | Hypoglycemia | OMIM:618005 | |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration | Hypoglycemia | OMIM:616878 | |
Silver-Russell Syndrome | Insulin resistance, Recurrent hypoglycemia | ORPHA:813 | |
Leigh Syndrome | Hypoglycemia | ORPHA:506 | |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia | Hypoglycemia | OMIM:616007 | |
Multiple Mitochondrial Dysfunctions Syndrome 7 | Hyperglycemia, Hypoglycemia | OMIM:620423 | |
3-Methylglutaconic Aciduria Type 7 | Neonatal hypoglycemia | ORPHA:445038 | |
Mitochondrial Trifunctional Protein Deficiency 1 | Hypoketotic hypoglycemia | OMIM:609015 | |
Cerebral Visual Impairment | Neonatal hypoglycemia | ORPHA:447788 | |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To | Hypoglycemia | OMIM:615751 | |
Congenital Disorder Of Glycosylation, Type It | Hypoglycemia | OMIM:614921 | |
Acyl-Coa Dehydrogenase 9 Deficiency | Nonketotic hypoglycemia | ORPHA:99901 | |
Immunodeficiency 59 And Hypoglycemia | Hypoglycemia | OMIM:233600 | |
Orthostatic Hypotension 1 | Neonatal hypoglycemia | OMIM:223360 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypoglycemia | OMIM:251880 | |
Fanconi-Bickel Syndrome | Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia | OMIM:227810 | |
Familial Glucocorticoid Deficiency | Hypoglycemic seizures, Ketotic hypoglycemia | ORPHA:361 | |
Congenital Disorder Of Glycosylation, Type Im | Hypoketotic hypoglycemia | OMIM:610768 | |
Oculodentodigital Dysplasia | Hypoglycemia | ORPHA:2710 | |
X-Linked Dominant Chondrodysplasia Punctata | Neonatal hypoglycemia | ORPHA:35173 | |
Cholera | Hypoglycemia | ORPHA:173 | |
Pituitary Apoplexy | Hypoglycemia | ORPHA:95613 | |
3-Methylglutaconic Aciduria, Type Viib | Neonatal hypoglycemia | OMIM:616271 | |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) | Hypoglycemia, Recurrent hypoglycemia | OMIM:256810 | |
Dilated Cardiomyopathy With Ataxia | Neonatal hypoglycemia | ORPHA:66634 | |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures | Hypoglycemia | OMIM:614501 | |
Bannayan-Riley-Ruvalcaba Syndrome | Hypoglycemia | ORPHA:109 | |
3-Hydroxy-3-Methylglutaric Aciduria | Nonketotic hypoglycemia, Recurrent hypoglycemia | ORPHA:20 | |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency | Hypoglycemia | ORPHA:90790 | |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 | Neonatal hypoglycemia, Hypoglycemia | OMIM:619418 | |
Pyruvate Carboxylase Deficiency | Hyperglycemia, Hypoglycemia | ORPHA:3008 | |
Wars2-Related Combined Oxidative Phosphorylation Defect | Neonatal hypoglycemia | ORPHA:572798 | |
Congenital Syphilis | Hypoglycemia | ORPHA:499009 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypoketotic hypoglycemia | ORPHA:26793 | |
Mitochondrial Trifunctional Protein Deficiency | Hypoketotic hypoglycemia | ORPHA:746 | |
Shigellosis | Hypoglycemia | ORPHA:810 | |
Kabuki Syndrome 2 | Neonatal hypoglycemia | OMIM:300867 | |
Sheehan Syndrome | Hypoglycemia | ORPHA:91355 | |
Holoprosencephaly | Diabetes mellitus, Hypoglycemia | ORPHA:2162 | |
Multiple Endocrine Neoplasia, Type I | Hypoglycemia | OMIM:131100 | |
Glutaryl-Coa Dehydrogenase Deficiency | Fasting hypoglycemia | ORPHA:25 | |
Glycogen Storage Disease Ib | Hypoglycemia | OMIM:232220 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Hypoglycemia | ORPHA:17 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies | Hypoglycemia | OMIM:301066 | |
Alg12-Cdg | Recurrent hypoglycemia | ORPHA:79324 | |
Renal Agenesis, Bilateral | Nonketotic hypoglycemia | ORPHA:1848 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 | Hyperglycemia, Hypoglycemia, Recurrent hypoglycemia | OMIM:124000 | |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency | Neonatal hypoglycemia | ORPHA:90791 | |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) | Hypoglycemia | OMIM:617156 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hypoglycemia | ORPHA:79282 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 | Insulin resistance, Fasting hypoglycemia | ORPHA:96182 | |
Carnitine Palmitoyltransferase Ii Deficiency | Hypoketotic hypoglycemia | ORPHA:157 | |
Acute Adrenal Insufficiency | Hypoglycemia | ORPHA:95409 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Hypoglycemia | OMIM:252010 | |
Perlman Syndrome | Hypoglycemia | OMIM:267000 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib | Hypoglycemic seizures, Hypoglycemia | ORPHA:79259 | |
Histiocytoid Cardiomyopathy | Hypoglycemia | ORPHA:137675 | |
Hereditary Fructose Intolerance | Reactive hypoglycemia | ORPHA:469 | |
Leprechaunism | Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi... | ORPHA:508 | |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form | Hypoketotic hypoglycemia | ORPHA:228308 | |
Generalized Glucocorticoid Resistance Syndrome | Hypoglycemia | ORPHA:786 | |
Menkes Disease | Hypoglycemia | ORPHA:565 | |
Addison Disease | Type I diabetes mellitus, Hypoglycemia | ORPHA:85138 | |
Glycogen Storage Disease Ic | Hypoglycemia | OMIM:232240 | |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome | Recurrent hypoglycemia | ORPHA:293978 | |
Tyrosinemia, Type I | Hypoglycemia | OMIM:276700 | |
Glycerol Kinase Deficiency | Hypoglycemia | OMIM:307030 | |
Fructose Intolerance, Hereditary | Glycosuria, Hypoglycemia | OMIM:229600 | |
Rajab Interstitial Lung Disease With Brain Calcifications 1 | Hypoglycemia | OMIM:613658 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Hypoglycemia | ORPHA:226307 | |
Primary Fanconi Renotubular Syndrome | Glycosuria, Hypoglycemia | ORPHA:3337 | |
Simpson-Golabi-Behmel Syndrome | Hypoglycemia | ORPHA:373 | |
Deeah Syndrome | Neonatal hypoglycemia | OMIM:619004 | |
Glycogen Storage Disease Of Heart, Lethal Congenital | Neonatal hypoglycemia | OMIM:261740 | |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency | Neonatal hypoglycemia | ORPHA:168558 | |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency | Neonatal hypoglycemia | ORPHA:289548 | |
Beckwith-Wiedemann Syndrome | Neonatal hypoglycemia, Hypoglycemia | ORPHA:116 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 | Hyperglycemia, Hypoglycemia | OMIM:220111 | |
Costello Syndrome | Hypoglycemia | OMIM:218040 | |
Marburg Hemorrhagic Fever | Hypoglycemia | ORPHA:99826 | |
Non-Acquired Panhypopituitarism | Hypoglycemia | ORPHA:90695 | |
Neurooculorenal Syndrome | Recurrent hypoglycemia | OMIM:620305 | |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome | Neonatal hypoglycemia | ORPHA:457359 | |
Acute Liver Failure | Hypoglycemia | ORPHA:90062 | |
3-Methylglutaconic Aciduria, Type Viii | Neonatal hypoglycemia | OMIM:617248 | |
Holoprosencephaly 1 | Hypoglycemia | OMIM:236100 | |
Combined Pituitary Hormone Deficiencies, Genetic Forms | Hypoglycemia | ORPHA:95494 | |
Beckwith-Wiedemann Syndrome | Neonatal hypoglycemia | OMIM:130650 | |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | Hypoglycemia | OMIM:201750 | |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency | Neonatal hypoglycemia | ORPHA:90794 | |
Sotos Syndrome | Neonatal hypoglycemia | ORPHA:821 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Fbp1tm436505(L1L2_GT2_LF2A_LacZ_BetactP_neo) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Fbp1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Fbp1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Fbp1tm1(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
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