Gene Summary

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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
Edema, Hypermelanotic macule OMIM:148000
Retinitis Pigmentosa 42
Pallor OMIM:612943
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Retinitis Pigmentosa 81
Pallor OMIM:617871
Lipedema
Edema OMIM:614103
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Retinitis Pigmentosa 60
Pallor OMIM:613983
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism OMIM:214700
Mastocytosis, Cutaneous
Edema, Erythema, Hypermelanotic macule OMIM:154800
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Optic Atrophy 9
Pallor OMIM:616289
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Hy... ORPHA:90794
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Acral Self-Healing Collodion Baby
Erythema, Lack of skin elasticity, Edema of the dorsum of feet, Palmoplantar scaling skin, Edema ... ORPHA:281127
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Retinitis Pigmentosa 70
Pallor OMIM:615922
Breath-Holding Spells
Pallor OMIM:607578
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Cafe-au-lait spot OMIM:615234
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Pallor, Oligohydramnios, Polyhydramnios ORPHA:163596
Retinitis Pigmentosa 73
Pallor OMIM:616544
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E... OMIM:601678
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hypokalemia, Increased serum prostaglandin E2, Hypochloremi... OMIM:241200
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hemoglobin D Disease
Pallor ORPHA:90039
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hypomagnesemia, H... ORPHA:89938
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Testicular atrophy, Decreased fertility OMIM:313200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Myelofibrosis
Pallor, Purpura OMIM:254450
Wells Syndrome
Edema, Skin vesicle ORPHA:901
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Petechiae, Edema, Hypopigmentation of the skin ORPHA:158029
American Trypanosomiasis
Edema, Pallor, Periorbital edema ORPHA:3386
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Irida Syndrome
Pallor ORPHA:209981
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Retinitis Pigmentosa 75
Pallor OMIM:617023
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Retinitis Pigmentosa 51
Pallor OMIM:613464
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Hemochromatosis, Type 1
Increased serum iron, Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism,... OMIM:235200
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Elliptocytosis 1
Pallor OMIM:611804
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation, Cafe-au-lait spot OMIM:609053
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Primary Myelofibrosis
Ecchymosis, Pallor, Purpura, Petechiae ORPHA:824
Senior-Loken Syndrome 8
Pallor OMIM:616307
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor ORPHA:329971
Cold Agglutinin Disease
Pallor ORPHA:56425
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Dravet Syndrome
Pallor ORPHA:33069
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Abnormality of iron homeostasis, Infertility, Amenorrhea, Hypogonadotropic hy... ORPHA:465508
Beta-Ketothiolase Deficiency
Edema, Pallor, Dehydration ORPHA:134
Superficial Epidermolytic Ichthyosis
Edema, Erythema ORPHA:455
Waldenström Macroglobulinemia
Purpura, Pleural effusion, Pedal edema, Pallor, Periorbital edema ORPHA:33226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Cafe-au-lait spot ORPHA:300298
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Sepsis In Premature Infants
Edema, Pallor, Purpura, Petechiae ORPHA:90051
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Refractory Anemia With Excess Blasts
Pedal edema, Anemic pallor ORPHA:86839
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Dominant Beta-Thalassemia
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231226
Letterer-Siwe Disease
Pallor OMIM:246400
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Pallor, Dehydration ORPHA:20
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Thalassemia Major
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231214
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fumarase Deficiency
Pallor OMIM:606812
Incontinentia Pigmenti
Abnormality of skin pigmentation, Pallor, Erythema OMIM:308300
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Fanconi Anemia, Complementation Group C
Hyperpigmentation of the skin, Intrauterine growth retardation, Anemic pallor, Cafe-au-lait spot OMIM:227645
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Anemic pallor, Cafe-au-lait spot OMIM:600901
Rare Circulatory System Disease
Pallor ORPHA:98028
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Anemic pallor, Cafe-au-lait spot OMIM:227650
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Hyperuricosuria OMIM:300322
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Infection-Related Hemolytic Uremic Syndrome
Edema, Pallor, Generalized edema, Pleural empyema ORPHA:544482
Adenohypophysitis
Pallor ORPHA:95512
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Panhypophysitis
Pallor ORPHA:95513
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Idiopathic Hypereosinophilic Syndrome
Pallor, Pleural effusion, Joint swelling, Angioedema ORPHA:3260
Degcags Syndrome
Intrauterine growth retardation, Abnormality of skin pigmentation, Hypopigmentation of the skin, ... OMIM:619488
Histiocytoid Cardiomyopathy
Pallor, Pulmonary edema ORPHA:137675
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Anemic pallor, Cafe-au-lait spot OMIM:227646
Esophageal Atresia
Pallor, Polyhydramnios ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Pallor, Pericardial effusion ORPHA:91347
Von Hippel-Lindau Disease
Pallor, Macular edema ORPHA:892
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation OMIM:105650
Blackfan-Diamond Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
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 process term developmental dysplasia Eif4enif1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Eif4enif1em1(IMPC)Tcp HET Early adult
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

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.

No publications found that use IMPC mice or data for Eif4enif1.

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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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