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Gene: Eif4g1 MGI:2384784

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Gene Summary

Name:
eukaryotic translation initiation factor 4, gamma 1
Synonyms:
E030015G23Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Eif4g1em1(IMPC)Hmgu HET   Early adult 5.93×10-06
increased fasting circulating glucose level Eif4g1em1(IMPC)Hmgu HET Early adult 5.67×10-05
decreased spleen weight Eif4g1em1(IMPC)Hmgu HET Early adult 1.97×10-05
increased circulating alanine transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 1.50×10-05
abnormal vocalization Eif4g1em1(IMPC)Hmgu HET Early adult 4.02×10-07
increased total retina thickness Eif4g1em1(IMPC)Hmgu HET Early adult 8.18×10-05
increased circulating chloride level Eif4g1em1(IMPC)Hmgu HET   Early adult 3.46×10-05
abnormal retina vasculature morphology Eif4g1em1(IMPC)Hmgu HET Early adult 1.45×10-17
increased circulating aspartate transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 7.32×10-11
abnormal retina blood vessel morphology Eif4g1em1(IMPC)Hmgu HET Early adult 1.01×10-17
preweaning lethality, complete penetrance Eif4g1em1(IMPC)Hmgu HOM   Early adult 1.79×10-05
decreased lean body mass Eif4g1em1(IMPC)Hmgu HET   Early adult 3.17×10-05

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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Eif4g1 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.

The table below shows human diseases associated to Eif4g1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Dementia, Low frustration tolerance, Depression ORPHA:411602
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
OMIM:614251

The table below shows human diseases predicted to be associated to Eif4g1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive OMIM:214700
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:613090
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:444002
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Hsd10 Disease
Short attention span, Abnormal social behavior ORPHA:391417
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... OMIM:601678
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Rod-cone dystro... OMIM:615986
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... ORPHA:89938
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp... OMIM:241200
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive OMIM:602522
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:247691
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Hypoalbuminemia... ORPHA:2298
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia ORPHA:90794
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hy... OMIM:617053
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia OMIM:602361
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... ORPHA:309271
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... ORPHA:309263
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Fle... OMIM:609069
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:93932
Microphthalmia, Syndromic 9
Inguinal hernia, Hypoplastic spleen, Multilobulated spleen, Congenital diaphragmatic hernia OMIM:601186
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Abnormal social behavior, Impaired social interactions ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Depression, Dementia, Low frustration tolerance, Cognitive ... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior ORPHA:314647
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Tuberous Sclerosis Complex
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression ORPHA:805
Mend Syndrome
Abnormal social behavior ORPHA:401973
Williams Syndrome
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:904
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Dementia, Low frustration tolerance, Depression ORPHA:411602
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
OMIM:614251

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 Eif4g1

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 Eif4g1.

No publications found that use IMPC mice or data for Eif4g1.

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MGI Allele Allele Type Produced
Eif4g1em1(IMPC)Hmgu Exon Deletion Mice
Eif4g1tm43513(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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