Gene Summary

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

IMPC Data Collections

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
decreased circulating serum albumin level Elof1tm1.1(KOMP)Vlcg HET Early adult 9.27×10-06
hypoactivity Elof1tm1.1(KOMP)Vlcg HET Early adult 1.84×10-05
embryonic lethality prior to tooth bud stage Elof1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
decreased circulating glucose level Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.77×10-05
increased heart weight Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.00×10-05
increased circulating sodium level Elof1tm1.1(KOMP)Vlcg HET Early adult 1.16×10-05
preweaning lethality, complete penetrance Elof1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased coping response Elof1tm1.1(KOMP)Vlcg HET   Early adult 6.74×10-06

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Sleep Wake

Wake state (bmp file)

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

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
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Pyruvate Carboxylase Deficiency
Hyperammonemia, Dystonia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic ... ORPHA:3008
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Decreased serum creatinine OMIM:300539
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia OMIM:617156
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Irritability, Hypoglycemia OMIM:240800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Irritability OMIM:304800
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia, Broad-based gait OMIM:618805
Central Diabetes Insipidus
Lethargy, Hyponatremia, Anxiety ORPHA:178029
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Increas... OMIM:267700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Ventricular septal defect OMIM:615508
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulating creatine kinase co... ORPHA:94093
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Aggressive behavior, Hepatomegaly, Hypertriglyce... ORPHA:247585
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Difficulty walking, Apathy, Hyponatremia, Abn... ORPHA:100924
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated ... OMIM:600649
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abnormal cardiac septum morphology, Hypoalbuminemia, Abnormal heart morphology OMIM:608104
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Hypoglycemia OMIM:609016
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Wolcott-Rallison Syndrome
Atrial septal defect, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double ... ORPHA:1667
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Immunodeficiency 27A
Hepatosplenomegaly, Hypoalbuminemia, Splenomegaly OMIM:209950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Elevated circulating creatine kinase concentration, Hypoglycemia, Dilated cardiomyopath... OMIM:618120
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia, Ventricular septal defect OMIM:616730
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Lethargy, Endocardial fibroelastosis, Impaired glucon... OMIM:212140
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Irritability, Hyperlipidemia ORPHA:2089
Necrotizing Enterocolitis
Lethargy, Abnormal heart morphology, Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Hepatomegaly, Hypoalbuminemia, Splenomegaly OMIM:251880
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperkalemic Periodic Paralysis
Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, ... ORPHA:682
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Cholera
Hypocalcemia, Lethargy, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia... ORPHA:173
Leishmaniasis
Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:507
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Congenital Enterovirus Infection
Pericardial effusion, Irritability, Hypoalbuminemia, Myocarditis, Hyperammonemia, Cardiomyopathy ORPHA:292
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Cardiomyopathy, Hypoglycemia ORPHA:35
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kin... OMIM:255120
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Anxiety ORPHA:83601
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagn... OMIM:618183
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Hypoglycemia, Ataxia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Diabetes mellitus, Hyponatremia, Hyperuricemia OMIM:613845
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Atrial septal defect, Elevated circulating sebacic acid concentration, Increased ... OMIM:615160
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hyperamylasemia, Hypoglycemia, Hyperalaninemia, Elevated circulating c... OMIM:619386
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hyperalaninemia, Hypoglycemia, Hypertrophic cardiomyopathy OMIM:614702
Familial Hypoaldosteronism
Hyperkalemia, Lethargy, Hyponatremia, Increased circulating renin level ORPHA:427
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:255249
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Hyperbilirubinemia, Ataxia, Hypocholesterolemia, Hepatomegaly, ... ORPHA:14
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hypoalbuminemia, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte... ORPHA:367
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Enlarged kidney, Hepatomegaly, Hypoalbuminemia, Splenome... OMIM:617303
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Whipple Disease
Pericarditis, Insulin resistance, Hyponatremia, Ataxia, Hepatomegaly, Splenomegaly, Myocarditis ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Neonatal hypoglycemia, Hypog... OMIM:619055
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:232400
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoglycemia OMIM:618838
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated plasma branched chain amino acids, Hyperisoleucine... ORPHA:2394
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hypoalbuminemia... ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Myoc... ORPHA:31824
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Emotional lability, Hepatomegaly, Hypokalemia, Hy... ORPHA:88673
Legionnaires Disease
Endocarditis, Pericarditis, Hyponatremia, Ataxia, Splenomegaly, Myocarditis ORPHA:549
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Hyperkalemia, Hypertrophic cardiomyopathy ORPHA:361
Primary Intestinal Lymphangiectasia
Hypocalcemia, Pericardial effusion, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal heart morphology, Hepatomegaly, Abnormal car... ORPHA:85443
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Ataxia, Hypocholesterolemia, Hepatomegaly, Hypoalbuminemia, Cardiomyopathy OMIM:212065
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hyperuricemia, Hypoglycemia, Hypercalcemia, Type I diabetes mellitus ORPHA:199299
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, Hyperacti... OMIM:235510
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Anxiety,... ORPHA:89842
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Hartsfield Syndrome
Hypernatremia OMIM:615465
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Lethargy, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Irritabilit... OMIM:212138
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral... OMIM:601005
Infantile Liver Failure Syndrome 2
Hyperammonemia, Cardiomyopathy, Lethargy, Hypoglycemia OMIM:616483
Early-Onset Schizophrenia
Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, Irritabil... ORPHA:96369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Type I diabetes melli... ORPHA:37042
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Constrictive pericarditis, Abnormal pericardium morphology ORPHA:67
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Hypoalbumine... ORPHA:505248
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Myocarditis, Elevat... ORPHA:36234
Snakebite Envenomation
Hyponatremia ORPHA:449285
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Ventricular septal defect, Hypermethioninemia, Hepatomegaly, Pul... OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level ORPHA:90791
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:617053
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy, Transient hyperlipidemia ORPHA:156
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Decreased plasma total carnitine, Hypoglycemia, Ataxia, Hepatomegaly, Cardiomegaly, Ele... ORPHA:42
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevat... OMIM:201475
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Anxiety ORPHA:79473
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Increased serum iron, Hepatome... OMIM:235200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hypercalcemia, Hype... ORPHA:95409
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hypoproteinemia, Pericardial eff... ORPHA:167
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Apathy, ... ORPHA:465508
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia, Myocarditis ORPHA:810
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Lethargy, Hypoglycemia OMIM:615751
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Addison Disease
Hyponatremia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hypercalcemia, Type... ORPHA:85138
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Galloway-Mowat Syndrome 1
Dystonia, Hypoalbuminemia, Ataxia OMIM:251300
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Maple Syrup Urine Disease
Lethargy, Elevated plasma branched chain amino acids, Ataxia, Hypoglycemia, Elevated circulating ... OMIM:248600
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Aggressive behavior, Hepatomegaly, Cardiomegaly, Splenomegaly, Hyp... OMIM:252920
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Hyperalaninemia, Cardiomegaly, Hyperammonem... OMIM:619051
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Infant Botulism
Hyponatremia ORPHA:178478
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hyponatremia, Hypokalemia, Irritability, Unconjuga... ORPHA:90038
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Holoprosencephaly
Dystonia, Ventricular septal defect, Hyponatremia, Hypoglycemia, Abnormal pulmonary valve morphol... ORPHA:2162
Familial Dysautonomia
Gait disturbance, Hyponatremia, Ataxia ORPHA:1764
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Decreased plasma carnitine, Lethargy, Hypoglycemia OMIM:201450
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Car... OMIM:300257
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus OMIM:616026
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Lethargy, Irritability, Hypoglycemia OMIM:229700
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:168558
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly OMIM:261680
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:289548
Primary Sclerosing Cholangitis
Hepatomegaly, Type I diabetes mellitus, Hypoalbuminemia, Splenomegaly, Hepatosplenomegaly ORPHA:171
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Acute Intermittent Porphyria
Hyponatremia, Anxiety ORPHA:79276
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Emotional lability, Hypokalemia, Hypochloremia, ... ORPHA:89938
Juvenile Polyposis Of Infancy
Atrial septal defect, Hypoalbuminemia, Abnormal heart morphology ORPHA:79076
Japanese Encephalitis
Dystonia, Hyponatremia ORPHA:79139
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Hyponatremia, Emotional lability, Hyperglycemia, Hy... ORPHA:293987
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Adenohypophysitis
Hyponatremia ORPHA:95512
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Lethargy, Hypoglycemia OMIM:210200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, Glycosuria, Hepatomegaly, Spl... OMIM:219800
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Myocarditis, Diabetes mellitus, Hyperkalemia ORPHA:544482
Panhypophysitis
Hyponatremia ORPHA:95513
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Self-injurious behavior, Hyponatremia, Hyp... ORPHA:534
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia, Hepatosplenomegaly, Hyperkalemia ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Hypoglycemia OMIM:617049
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis, Lethargy, Hypoglycemia OMIM:228100
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concen... ORPHA:731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Neonatal hypoglycemia, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Tyrosinemia, Type I
Enlarged kidney, Hypertyrosinemia, Hypophosphatemic rickets, Hypermethioninemia, Elevated alpha-f... OMIM:276700
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Hyperbilirubinemia, Hyperuricemia, Hypoglycemia, Glycosuria, Hepatome... OMIM:229600
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Pmm2-Cdg
Pericarditis, Hyperinsulinemia, Insulin resistance, Pericardial effusion, Ataxia, Hypoalbuminemia... ORPHA:79318
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457

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

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