Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased spleen weight Eif4g1em1(IMPC)Hmgu HET Early adult 1.97×10-05
preweaning lethality, complete penetrance Eif4g1em1(IMPC)Hmgu HOM   Early adult 1.79×10-05
increased total body fat amount Eif4g1em1(IMPC)Hmgu HET   Early adult 4.17×10-05
increased total retina thickness Eif4g1em1(IMPC)Hmgu HET Early adult 6.22×10-05
abnormal vocalization Eif4g1em1(IMPC)Hmgu HET Early adult 5.66×10-07
decreased lean body mass Eif4g1em1(IMPC)Hmgu HET   Early adult 3.26×10-05
increased circulating chloride level Eif4g1em1(IMPC)Hmgu HET   Early adult 3.46×10-05
decreased bone mineral density Eif4g1em1(IMPC)Hmgu HET   Early adult 7.73×10-05
increased fasting circulating glucose level Eif4g1em1(IMPC)Hmgu HET Early adult 5.64×10-05
abnormal retina vasculature morphology Eif4g1em1(IMPC)Hmgu HET Early adult 1.99×10-17
abnormal retina blood vessel morphology Eif4g1em1(IMPC)Hmgu HET Early adult 4.94×10-19
increased circulating aspartate transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 2.53×10-11
increased circulating alanine transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 1.74×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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
Dementia, Mental deterioration, Depression, Low frustration tolerance 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, Reduced social reciprocity OMIM:618830
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... ORPHA:168782
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Small for gest... OMIM:601678
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior ORPHA:444002
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Small for gest... OMIM:241200
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Hsd10 Disease
Short attention span, Abnormal social behavior ORPHA:391417
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f... ORPHA:89938
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule ... OMIM:615986
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior ORPHA:1020
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:248370
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Hyperglycemia, Joi... ORPHA:465508
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Decreased skull ossification, Asplenia, Hypoplastic spleen OMIM:602361
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Macular edema, Abnormality of the h... ORPHA:247691
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thr... OMIM:617053
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Weight loss, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Joint ... OMIM:609069
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Emotional lability, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Microphthalmia, Syndromic 9
Multilobulated spleen, Inguinal hernia, Hypoplastic spleen, Congenital diaphragmatic hernia OMIM:601186
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Abnormal social behavior, Reduced social reciprocity ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Low frustration tolerance... 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, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... ORPHA:363958
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:805
Mend Syndrome
Abnormal social behavior ORPHA:401973
Williams Syndrome
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior, Overfriendliness ORPHA:904
Hereditary Late-Onset Parkinson Disease
Dementia, Mental deterioration, Depression, Low frustration tolerance 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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