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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
abnormal retina vasculature morphology Eif4g1em1(IMPC)Hmgu HET Early adult 1.58×10-17
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 circulating aspartate transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 6.82×10-10
abnormal retina blood vessel morphology Eif4g1em1(IMPC)Hmgu HET Early adult 1.03×10-17
increased circulating alanine transaminase level Eif4g1em1(IMPC)Hmgu HET Early adult 2.84×10-05
abnormal vocalization Eif4g1em1(IMPC)Hmgu HET Early adult 2.80×10-07
increased circulating chloride level Eif4g1em1(IMPC)Hmgu HET   Early adult 3.79×10-05

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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, Apathy, Dementia, 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
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... OMIM:180080
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300495
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, No social interaction, Lack of p... ORPHA:96369
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Dopa-Responsive Dystonia
Agoraphobia, Abnormal social behavior, Fatigable weakness, Anxiety, Panic attack, Emotional labil... ORPHA:255
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608049
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Abnormal social behavior ORPHA:101039
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Reti... ORPHA:247691
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Hypoplastic spleen ORPHA:89844
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Exocrine pancreatic insufficiency, H... ORPHA:699
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombocytopenia, Hyperkalemia OMIM:617053
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Emotional lab... ORPHA:309271
Childhood Absence Epilepsy
Anxiety, Abnormal social behavior ORPHA:64280
48,Xxxy Syndrome
Abnormal aggressive, impulsive or violent behavior, Anxiety, Irritability, Abnormal social behavior ORPHA:96263
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired social interactions, Sk... ORPHA:177907
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Niemann-Pick Disease Type C
Apathy, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive neurolo... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior ORPHA:1675
Mend Syndrome
Aggressive behavior, Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Anxiety, Self-injurious behavior, Aggressive behavior, Abnormal social behavior ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:363958
Williams Syndrome
Overfriendliness, Anxiety, Abnormal social behavior ORPHA:904
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Apathy, Dementia, 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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