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Gene: Eif4enif1 MGI:1921453

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Gene Summary

Name:
eukaryotic translation initiation factor 4E nuclear import factor 1
Synonyms:
A930019J01Rik,  D11Ertd166e,  Clast4,  2610509L04Rik

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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
small testis Eif4enif1em1(IMPC)Tcp HET Early adult 0.00
abnormal urinary bladder morphology Eif4enif1em1(IMPC)Tcp HOM Early adult 0.00
edema Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, incomplete penetrance Eif4enif1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin coloration Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
abnormal embryo size Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
decreased circulating chloride level Eif4enif1em1(IMPC)Tcp HET Early adult 1.73×10-05
pallor Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00

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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.

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Histopathology

Images

3 Images

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Human diseases caused by Eif4enif1 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.

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

The table below shows human diseases predicted to be associated to Eif4enif1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Lipedema
Edema OMIM:614103
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Pallor, Albinism ORPHA:2786
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mastocytosis, Cutaneous
Erythema, Hypermelanotic macule, Edema OMIM:154800
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
X-Linked Sideroblastic Anemia
Pallor, Hyperpigmentation of the skin ORPHA:75563
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Breath-Holding Spells
Pallor OMIM:607578
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hb Bart'S Hydrops Fetalis
Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... ORPHA:60041
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... ORPHA:89938
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hyperactive renin-angiotensin ... OMIM:241200
Hemoglobin D Disease
Pallor ORPHA:90039
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Myelofibrosis
Pallor, Purpura OMIM:254450
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Hypochromic Microcytic, With Iron Overload 2
Cafe-au-lait spot, Pallor OMIM:615234
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Irida Syndrome
Pallor ORPHA:209981
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Petechiae, Edema, Hyperpigmentation of the skin ORPHA:158029
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... OMIM:235200
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Elliptocytosis 1
Pallor OMIM:611804
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Cafe-au-lait spot, Pallor OMIM:609053
Retinitis Pigmentosa 75
Pallor OMIM:617023
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Dravet Syndrome
Pallor ORPHA:33069
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Cold Agglutinin Disease
Pallor ORPHA:56425
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Waldenström Macroglobulinemia
Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Cafe-au-lait spot, Pallor ORPHA:300298
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Petechiae, Pallor, Edema, Purpura ORPHA:90051
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Increased circulating ferritin ... ORPHA:465508
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Edema, Dehydration ORPHA:20
Dominant Beta-Thalassemia
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231226
Letterer-Siwe Disease
Pallor OMIM:246400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fumarase Deficiency
Ascites, Pallor, Polyhydramnios OMIM:606812
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Beta-Thalassemia Major
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231214
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Hydrops fetalis, Dehydration OMIM:557000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Incontinentia Pigmenti
Abnormality of skin pigmentation, Erythema, Pallor OMIM:308300
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Cafe-au-lait spot, Anemic pallor, Hyperpigmentation of the skin OMIM:227645
Fanconi Anemia, Complementation Group E
Cafe-au-lait spot, Anemic pallor, Hyperpigmentation of the skin OMIM:600901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor OMIM:227650
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Panhypophysitis
Pallor ORPHA:95513
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Pallor, Edema, Generalized edema ORPHA:544482
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Idiopathic Hypereosinophilic Syndrome
Pleural effusion, Angioedema, Joint swelling, Pallor ORPHA:3260
Histiocytoid Cardiomyopathy
Pallor, Pulmonary edema ORPHA:137675
Degcags Syndrome
Polyhydramnios, Abnormality of skin pigmentation, Pallor, Intrauterine growth retardation, Hypopi... OMIM:619488
Esophageal Atresia
Pallor, Polyhydramnios ORPHA:1199
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor OMIM:227646
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Von Hippel-Lindau Disease
Pallor, Macular edema ORPHA:892
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Diamond-Blackfan Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Spina bifida occulta, Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH pathological entity term hydrocephalus Eif4enif1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Eif4enif1em1(IMPC)Tcp HET Early adult
Brain - MPATH pathological process term developmental dysplasia Eif4enif1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Eif4enif1em1(IMPC)Tcp HET Early adult

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 Eif4enif1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The P-body protein 4E-T represses translation to regulate the balance between cell genesis and establishment of the postnatal NSC pool. Cell reports (March 2023) Eif4enif1tm2c(KOMP)Wtsi Eif4enif1tm2a(KOMP)Wtsi 36924490

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
Eif4enif1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eif4enif1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eif4enif1em1(IMPC)Tcp Indel Mice, Tissue
Eif4enif1tm37463(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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