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Gene: Eif4ebp1 MGI:103267

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

eukaryotic translation initiation factor 4E binding protein 1

Synonyms:

4e-bp1, PHAS-I

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.

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 Eif4ebp1 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 Eif4ebp1 (0 diseases)
Human diseases predicted to be associated with Eif4ebp1 (305 diseases)

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

The table below shows human diseases predicted to be associated to Eif4ebp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased...	ORPHA:314811
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins...	ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo...	OMIM:601820
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H...	OMIM:262400
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te...	OMIM:262700
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d...	ORPHA:324575
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo...	OMIM:608600
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hypoglycemia	OMIM:232700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia...	ORPHA:276580
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O...	OMIM:300148
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co...	OMIM:617872
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Type I ...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni...	OMIM:614736
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas...	OMIM:246200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Endocardial Fibroelastosis	Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia	ORPHA:67048
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypoglycemia	ORPHA:163693
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Decreased body...	ORPHA:391408
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive	OMIM:620357
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia	ORPHA:48431
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes...	ORPHA:2298
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Ketotic hypoglycemia	ORPHA:26792
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia	OMIM:619048
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Hypoglycemia	ORPHA:289504
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hypoglycemia, Delayed puberty	ORPHA:369
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia	OMIM:240200
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Hypoglycemia	OMIM:618958
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia	OMIM:617950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Ankle flexion contracture	OMIM:618120
Galactokinase Deficiency	Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur...	ORPHA:79237
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg...	OMIM:609069
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,...	ORPHA:95496
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-...	ORPHA:263455
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Hypoglycemia, Cachexia	ORPHA:42
Laron Syndrome	Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty	ORPHA:633
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:614702
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Inguinal hernia, Hypothyroidism, Hypoglycemia	ORPHA:397590
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Hypoglycemia	OMIM:619386
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Smith-Kingsmore Syndrome	Umbilical hernia, Hypoglycemia, Large for gestational age	OMIM:616638
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia	ORPHA:79096
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Propionic Acidemia	Hypoglycemia	ORPHA:35
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia	OMIM:614739
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Hypoglycemia	ORPHA:2394
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Cyanosis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture	OMIM:620275
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia	OMIM:245400
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis...	OMIM:616113
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion...	ORPHA:90791
Classic Galactosemia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:79239
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci...	ORPHA:769
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia	OMIM:620137
Acth Deficiency, Isolated	Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc...	OMIM:201400
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:606407
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia	OMIM:618253
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Recurrent hypoglycemia, Hypothyroidism, Delayed puberty	OMIM:616817
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea...	OMIM:269700
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT...	ORPHA:199299
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Failure to thrive, Hypothyroidism, Hypoglycemia	OMIM:618005
Hemochromatosis, Neonatal	Hypoglycemia	OMIM:231100
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro...	ORPHA:199296
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr...	ORPHA:109
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC...	ORPHA:90790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia	OMIM:618838
Hsd10 Disease, Infantile Type	Cyanosis, Hypoglycemia	ORPHA:391428
Glycogen Storage Disease Ixb	Hypoglycemia	OMIM:261750
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive	OMIM:212140
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age	OMIM:616026
Propionic Acidemia	Failure to thrive, Hypoglycemia	OMIM:606054
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Neonatal hypoglycemia	OMIM:619046
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia...	OMIM:227810
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Atypical Werner Syndrome	Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins...	ORPHA:79474
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive...	ORPHA:71212
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Sheehan Syndrome	Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ...	ORPHA:91355
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210200
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Hypoglycemia, Adrenal hypoplasia, Primary adrenal insuffici...	ORPHA:95409
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age	OMIM:619075
Reni Syndrome	Hypogonadism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency	OMIM:617575
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia	OMIM:251000
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Adrenal calcification, Ad...	ORPHA:85138
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Umbilical hernia, Small for gestational age, Hypoglycemia	OMIM:614501
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia	OMIM:617710
Timothy Syndrome	Hypothyroidism, Hypoglycemia	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia	OMIM:617049
D-Glyceric Aciduria	Failure to thrive, Hypoglycemia	OMIM:220120
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren...	ORPHA:813
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia	OMIM:618839
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:607143
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Recurrent hypoglycemia, Abnormal adipose tissue mor...	ORPHA:79324
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Small for gestational age, Neonatal hypoglycemia, Hypoglycemia	OMIM:619055
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Neonatal hypoglycemia	OMIM:617600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure to thrive	ORPHA:264580
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Elbow flexion contracture, Hypoglycemia, Knee flexion contracture	OMIM:608836
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency, Decrease...	OMIM:617053
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female...	ORPHA:90794
Glutaric Acidemia I	Failure to thrive, Hypoglycemia	OMIM:231670
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Perlman Syndrome	Pancreatic islet-cell hyperplasia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gesta...	OMIM:267000
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho...	OMIM:616007
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia	OMIM:246450
Beta-Ketothiolase Deficiency	Hyperglycemia, Hypoglycemia, Weight loss	ORPHA:134
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:617093
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe	ORPHA:457279
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Congenital foot contractures	ORPHA:565624
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia	OMIM:600649
Mitochondrial Trifunctional Protein Deficiency 1	Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia	OMIM:609015
Leigh Syndrome	Failure to thrive, Multiple joint contractures, Hypoglycemia	ORPHA:506
Maple Syrup Urine Disease	Hypoglycemia	OMIM:248600
Shashi-Pena Syndrome	Hypoglycemia	OMIM:617190
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Corneal scarring	OMIM:256810
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Large for gestational age	ORPHA:457485
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Isolated Complex I Deficiency	Failure to thrive, Diabetes mellitus, Hypoglycemia	ORPHA:2609
Holoprosencephaly	Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congenital diaphragma...	ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Umbilical hernia, Hypoglycemia, Obesity	OMIM:301066
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Hypoglycemia	OMIM:210210
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia	OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	OMIM:614921
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia	ORPHA:79240
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Oculodentodigital Dysplasia	Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycemia	ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypoglycemia	OMIM:608779
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypothyroidism, Hypoglycemia, Premature thelarche, Premature pubarche	OMIM:616878
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia	OMIM:251880
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glycosuria	OMIM:231680
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:26791
Rett Syndrome	Failure to thrive, Increased serum leptin	ORPHA:778
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Neonatal hypoglycemia	OMIM:616271
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia	ORPHA:26793
Menkes Disease	Inguinal hernia, Hypoglycemia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcin...	ORPHA:565
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Flexion contracture, Hypoglycemia	ORPHA:17
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia	ORPHA:746
Sotos Syndrome	Glucose intolerance, Increased body weight, Neonatal hypoglycemia	OMIM:117550
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Failure to thrive	ORPHA:99901
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia	OMIM:255120
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Hypoketotic hypoglycemia	OMIM:610768
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Failure to thrive in infancy, Neonatal hypoglycemia, Hypoglycemia	OMIM:619418
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Glycogen Storage Disease Ia	Hypoglycemia, Fasting hypoglycemia, Delayed puberty	OMIM:232200
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Neonatal hypoglycemia	ORPHA:445038
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Small for gestational age, Hypoglycemia, Failure to thrive, Slender build	OMIM:613658
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia	OMIM:201475
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital diaphragmatic h...	ORPHA:116
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou...	ORPHA:740
Orthostatic Hypotension 1	Neonatal hypoglycemia, Reduced circulating prolactin concentration	OMIM:223360
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Adrenal insufficiency, Hypoglycemia, Small for gestational age	OMIM:307030
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Recurrent hypoglycemia, Weight loss	ORPHA:20
Kabuki Syndrome 2	Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Pyruvate Carboxylase Deficiency	Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Mitochondrial Complex I Deficiency, Nuclear Type 1	Failure to thrive, Hypoglycemia, Cyanosis	OMIM:252010
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia, Cyanosis	ORPHA:137675
Shigellosis	Failure to thrive in infancy, Hypoglycemia	ORPHA:810
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, Neonatal hypoglycemia	ORPHA:66634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Thyroiditis, Hypoglycemic seizures, Delayed puberty, Failure to thrive, Hypothyroidism	ORPHA:79259
Deeah Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Decreased c...	OMIM:619004
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:373
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hypoglycemia	ORPHA:79282
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia	OMIM:617156
Cholera	Hypoglycemia	ORPHA:173
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Hyperglycemia	OMIM:124000
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Tyrosinemia, Type I	Failure to thrive, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:276700
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia	ORPHA:572798
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Hyperglycemia, Failure to thrive	OMIM:220111
Glycogen Storage Disease Ib	Hypoglycemia, Delayed puberty	OMIM:232220
Costello Syndrome	Achilles tendon contracture, Failure to thrive, Hypoglycemia	OMIM:218040
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Fructose Intolerance, Hereditary	Failure to thrive, Hypoglycemia, Glycosuria	OMIM:229600
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia, Weight loss	ORPHA:3337
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Decreased circulating ACTH con...	OMIM:620305
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia	ORPHA:157
Beckwith-Wiedemann Syndrome	Omphalocele, Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia	OMIM:130650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hypoketotic hypoglycemia	ORPHA:228308
Glycogen Storage Disease Ic	Hypoglycemia, Delayed puberty	OMIM:232240
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Neonatal hypoglycemia	OMIM:261740
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Acute Liver Failure	Adrenal insufficiency, Hypoglycemia, Hypocapnia	ORPHA:90062
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Marburg Hemorrhagic Fever	Hypoglycemia	ORPHA:99826
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Bilateral camptodactyly, Flexion con...	ORPHA:821

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 Eif4ebp1

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 Eif4ebp1.

No publications found that use IMPC mice or data for Eif4ebp1.

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
Eif4ebp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Eif4ebp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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