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Gene: Elof1 MGI:1913376

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Gene Summary

Name:
ELF1 homolog, elongation factor 1
Synonyms:
1110011K10Rik

Order Alleles

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
decreased coping response Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.55×10-06
decreased circulating serum albumin level Elof1tm1.1(KOMP)Vlcg HET Early adult 4.96×10-06
increased heart weight Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.00×10-05
embryonic lethality prior to tooth bud stage Elof1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance Elof1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased circulating sodium level Elof1tm1.1(KOMP)Vlcg HET Early adult 8.44×10-07

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Section

46 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Sleep Wake

Wake state (bmp file)

1 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Elof1 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 Elof1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid... OMIM:619868
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypermethioninemia, Hypoalbumin... OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:604765
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Irritability, Reduced blood urea n... OMIM:300539
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia OMIM:620152
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypoalbuminemia OMIM:615508
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Low plasma citrulline, Hyper... OMIM:615751
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Hepatomegaly, Irritability, Increased t... OMIM:267700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Apathy, Hyperalaninemia, Hepatomegaly, Elevated plasma citrull... ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total bilirubin, Hypoalbumin... OMIM:618528
Neuroleptic Malignant Syndrome
Hyperuricemia, Anxiety, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Central Diabetes Insipidus
Anxiety, Hyponatremia ORPHA:178029
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology, Hypoalbuminemia ORPHA:79327
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-reactive prote... OMIM:616050
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Hepatomegaly, Irritability, Increased total bilirubin, Hyper... OMIM:603553
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Hepatomegaly, Elevated plasma citrulline, Irritability, Hy... ORPHA:247585
Posttransplant Acute Limbic Encephalitis
Anxiety, Hyponatremia ORPHA:163921
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia OMIM:209950
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia OMIM:619013
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Apathy, Abnormal circulating porphyrin concentration, Anx... ORPHA:100924
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hepatomegaly, Irritability, Hypoalbuminemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 11
Ventricular septal defect, Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Leishmaniasis
Hepatomegaly, Splenomegaly, Hypoalbuminemia ORPHA:507
Immunodeficiency 32B
Hepatomegaly, Splenomegaly, Hypoalbuminemia OMIM:226990
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Wolcott-Rallison Syndrome
Hyperammonemia, Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Double outlet right ventr... ORPHA:1667
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia ORPHA:79319
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Hypoalbuminemia, Elevated circulating cre... OMIM:608104
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Congenital Enterovirus Infection
Myocarditis, Hyperammonemia, Cardiomyopathy, Irritability, Pericardial effusion, Hypoalbuminemia ORPHA:292
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Cardiomyopathy, Hypermethioninemia, Abnormal cir... ORPHA:88618
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypoalbum... OMIM:618183
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hepatomegaly, Dilated cardiomyopathy, Abnormal cardiomyocyte morphology, Hypo... ORPHA:367
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Overriding aorta, Hypoalbuminemia OMIM:617021
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypomagnesemia, Pericardial effusion, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Self-mutilation, Left ventricular hypertrophy, Hepatomegaly, Irritability, Pe... OMIM:619487
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia OMIM:602579
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypon... ORPHA:31824
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hyponatremia OMIM:608688
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... ORPHA:540
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia OMIM:619381
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anxiety, Abnormal circulating selenium concentration, Decreased plasma carn... ORPHA:89842
Al Amyloidosis
Abnormal cardiac atrium morphology, Monoclonal light chain cardiac amyloidosis, Increased circula... ORPHA:85443
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Hyponatremia ORPHA:83601
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Splenomeg... OMIM:251880
Cholera
Abnormal blood ion concentration, Hypokalemia, Irritability, Hypocalcemia, Hyponatremia ORPHA:173
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, H... OMIM:617303
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Hyperammonemia, Apathy, Hepatomegaly, Elevated circulatin... OMIM:610505
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
Snakebite Envenomation
Hyponatremia ORPHA:449285
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Hepatocellular Carcinoma
Emotional lability, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, H... ORPHA:88673
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Constrictive pericarditis, Hypoalbuminemia ORPHA:67
Legionnaires Disease
Myocarditis, Endocarditis, Splenomegaly, Pericarditis, Hyponatremia ORPHA:549
Hartsfield Syndrome
Hypernatremia OMIM:615465
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Hypocholeste... ORPHA:79324
Bacterial Toxic-Shock Syndrome
Myocarditis, Elevated circulating creatine kinase concentration, Hypocalcemia, Hypoalbuminemia, E... ORPHA:36234
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hypermethioninemia, Hepatomega... OMIM:222470
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Pericarditis, Hypoalbumi... OMIM:212065
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Hyperbilirubinemia, Decrease... ORPHA:14
Whipple Disease
Myocarditis, Hepatomegaly, Splenomegaly, Pericarditis, Hyponatremia ORPHA:3452
Porphyria Variegata
Anxiety, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Alg8-Cdg
Hyponatremia ORPHA:79325
Necrotizing Enterocolitis
Hyponatremia, Abnormal heart morphology ORPHA:391673
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Atrial septal defect, Pericardial lymphangiectasia, Pericardial effusi... OMIM:235510
Obsolete: Early-Onset Schizophrenia
Emotional lability, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Anxiet... ORPHA:96369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Splen... ORPHA:37042
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Wilson Disease
Hypouricemia, Hepatomegaly, Increased circulating copper concentration, Splenomegaly, Hyperbiliru... OMIM:277900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Enlarged kidney, Atrial septal defect, Abnormal heart morphology, Patent fora... ORPHA:505248
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hyponatremia, Hyperkalemia ORPHA:361
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Irritability, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Infant Botulism
Hyponatremia ORPHA:178478
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:199299
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, C... ORPHA:90363
Bartter Syndrome Type 4
Emotional lability, Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, ... ORPHA:89938
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Increased circulating NT-proBNP concentration,... ORPHA:85451
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Enlarged ovaries, Abnormal circulating fatty-acid conce... ORPHA:2298
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:95409
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypertriglyceridemia, Pericardial effusion, In... ORPHA:167
Marburg Hemorrhagic Fever
Pericarditis, Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:99826
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Left atrial enlargement, Ventricular septal defect, Elevated cir... OMIM:619991
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Juvenile Polyposis Of Infancy
Atrial septal defect, Abnormal heart morphology, Hypoalbuminemia ORPHA:79076
Acute Intermittent Porphyria
Anxiety, Hyponatremia ORPHA:79276
Shigellosis
Myocarditis, Abnormal blood ion concentration, Hyponatremia ORPHA:810
Smith-Lemli-Opitz Syndrome
Self-mutilation, Ventricular septal defect, Atrial septal defect, Elevated 7-dehydrocholesterol, ... OMIM:270400
Adenohypophysitis
Hyponatremia ORPHA:95512
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Panhypophysitis
Hyponatremia ORPHA:95513
Cystinosis, Nephropathic
Hypophosphatemia, Hepatomegaly, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitroge... OMIM:219800
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:602522
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypercholesterolemia, Hyperkalemia, Hypertriglyceridemia, Hyponatremia ORPHA:275761
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:168558
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:289548
Japanese Encephalitis
Hyponatremia ORPHA:79139
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Emotional lability, Anxiety, Hyperkalemia, Self-injurious behavior, Hyperlipidemia, Aggressive be... ORPHA:293987
Familial Dysautonomia
Hyponatremia ORPHA:1764
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Hyponatremia, Tetralogy of Fallot ORPHA:2162
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hypoalbuminemia ORPHA:171
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Secundum atrial septal defect, Dextrocardia, Ventricular septal defect, A... OMIM:619534
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Anxiety, Hypokalemia, Hypoammonemia, Self-injurious behav... ORPHA:534
Sheehan Syndrome
Hyponatremia ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... ORPHA:555874
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Increased serum bile acid concentration, Hypon... ORPHA:731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating renin level, Hyperkalemia OMIM:201750
Pmm2-Cdg
Reduced thyroxin-binding globulin, Pericardial effusion, Hypertrophic cardiomyopathy, Pericarditi... ORPHA:79318

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 Elof1

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 Elof1.

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

Title Journal IMPC Allele PubMed ID
The elongation factor Elof1 is required for mammalian gastrulation. PloS one (July 2019) Elof1tm1.1(KOMP)Vlcg PMC6611630

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MGI Allele Allele Type Produced
Elof1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Elof1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elof1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Elof1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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