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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
abnormal skin coloration Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
decreased circulating chloride level Eif4enif1em1(IMPC)Tcp HET Early adult 1.70×10-05
preweaning lethality, incomplete penetrance Eif4enif1em1(IMPC)Tcp HOM   Early adult 0.00
edema Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
abnormal urinary bladder morphology Eif4enif1em1(IMPC)Tcp HOM Early adult 0.00
pallor Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
abnormal embryo size Eif4enif1em1(IMPC)Tcp HOM E15.5 0.00
small testis Eif4enif1em1(IMPC)Tcp HET Early adult 0.00

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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 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 Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Pallor ORPHA:2786
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Mastocytosis, Cutaneous
Erythema, Hypermelanotic macule, Edema OMIM:154800
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Abnormal circulati... ORPHA:90794
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Breath-Holding Spells
Pallor OMIM:607578
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Pallor, Hydrops fetalis ORPHA:163596
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Congenital Heart Block
Intrauterine growth retardation, Peripheral edema, Pleural effusion, Oligohydramnios, Pallor, Per... ORPHA:60041
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... OMIM:601678
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:602522
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Optic Atrophy 1
Pallor OMIM:165500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:241200
Hemoglobin D Disease
Pallor ORPHA:90039
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Wells Syndrome
Skin vesicle, Edema ORPHA:901
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Irida Syndrome
Pallor ORPHA:209981
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Hypopigmentation of the skin, Petechiae, Edema ORPHA:158029
Retinitis Pigmentosa 51
Pallor OMIM:613464
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Cafe-au-lait spot OMIM:615234
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myelofibrosis
Purpura, Pallor OMIM:254450
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:235200
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Cafe-au-lait spot OMIM:609053
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Elliptocytosis 1
Pallor OMIM:611804
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Cold Agglutinin Disease
Pallor ORPHA:56425
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Beta-Ketothiolase Deficiency
Pallor, Dehydration, Edema ORPHA:134
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Waldenström Macroglobulinemia
Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema ORPHA:33226
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Cafe-au-lait spot ORPHA:300298
Tay-Sachs Disease
Pallor OMIM:272800
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te... ORPHA:465508
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Sepsis In Premature Infants
Pallor, Purpura, Petechiae, Edema ORPHA:90051
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Dehydration OMIM:246450
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dehydration, Edema ORPHA:20
Dominant Beta-Thalassemia
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231226
Childhood Absence Epilepsy
Pallor ORPHA:64280
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Letterer-Siwe Disease
Pallor OMIM:246400
Fumarase Deficiency
Ascites, Polyhydramnios, Pallor OMIM:606812
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Beta-Thalassemia Major
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231214
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Pallor, Dehydration OMIM:557000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Incontinentia Pigmenti
Erythema, Pallor, Abnormality of skin pigmentation OMIM:308300
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:227645
Fanconi Anemia, Complementation Group E
Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot OMIM:600901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Fanconi Anemia, Complementation Group A
Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Panhypophysitis
Pallor ORPHA:95513
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Pallor, Edema, Pleural empyema ORPHA:544482
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pituitary Apoplexy
Pallor ORPHA:95613
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Idiopathic Hypereosinophilic Syndrome
Pallor, Pleural effusion, Joint swelling, Angioedema ORPHA:3260
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Pulmonary edema, Pallor ORPHA:137675
Degcags Syndrome
Hypopigmentation of the skin, Intrauterine growth retardation, Pallor, Abnormality of skin pigmen... OMIM:619488
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Esophageal Atresia
Polyhydramnios, Pallor ORPHA:1199
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Fanconi Anemia, Complementation Group D2
Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation OMIM:227646
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Neuroblastoma
Anemic pallor ORPHA:635
Von Hippel-Lindau Disease
Macular edema, Pallor ORPHA:892
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Diamond-Blackfan Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Diamond-Blackfan Anemia 1
Spina bifida occulta, Intrauterine growth retardation, Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
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 entity term hydrocephalus Eif4enif1em1(IMPC)Tcp HET Early adult
Brain - MPATH pathological process term developmental dysplasia Eif4enif1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia 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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