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 coping response Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.55×10-06
preweaning lethality, complete penetrance Elof1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Elof1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
decreased circulating serum albumin level Elof1tm1.1(KOMP)Vlcg HET Early adult 4.96×10-06
increased circulating sodium level Elof1tm1.1(KOMP)Vlcg HET Early adult 8.38×10-07
decreased circulating glucose level Elof1tm1.1(KOMP)Vlcg HET   Early adult 7.37×10-05
increased heart weight Elof1tm1.1(KOMP)Vlcg HET   Early adult 9.00×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thalamus 0.0%
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
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 1.5% (6 of 400)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)

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 Dorso Ventral Orientation

12 Images

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

Combined SHIRPA and Dysmorphology

Images

1 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

Auditory Brain Stem Response

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

8 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
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:614736
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hypoglycemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:232700
Ethanolaminosis
Cardiomegaly OMIM:227150
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Anxiety, Hyperuricemia, Elevated circulating creatine k... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia OMIM:602579
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Hepatomegaly OMIM:609016
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Hypoalbuminemia OMIM:618805
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Hyp... ORPHA:324575
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Splenomegaly, Hypoalbuminemia, Elevated circulating... OMIM:616050
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Hepatomegaly, Hypoalbuminemia, Abnormal cardiac septum morphology OMIM:608104
Central Diabetes Insipidus
Anxiety, Hyponatremia ORPHA:178029
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Ab... ORPHA:2298
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Abnormal fear/anxiety-related behavior, Hypon... ORPHA:100924
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Hepatomegaly, ... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... OMIM:603553
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia OMIM:209950
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinem... ORPHA:1667
Posttransplant Acute Limbic Encephalitis
Anxiety, Hyponatremia ORPHA:163921
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Hepatomegaly, Hyperammonemia ORPHA:35
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating acylcarnitine concentration, D... ORPHA:79159
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia, Pericardial ef... OMIM:618183
Leishmaniasis
Splenomegaly, Hepatomegaly, Hypoalbuminemia ORPHA:507
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated circulating C-... ORPHA:158061
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoket... OMIM:600649
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Hyponatremia ORPHA:83601
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalactosemia, H... ORPHA:247598
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Congenital Enterovirus Infection
Myocarditis, Irritability, Cardiomyopathy, Hypoalbuminemia, Pericardial effusion, Hyperammonemia ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Diabetes mellitus, Hyperuricemia OMIM:613845
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Irritabi... ORPHA:173
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Endocardial fibroelastosis, Recurrent hypoglycemia, Hyper... OMIM:212140
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Necrotizing Enterocolitis
Abnormal heart morphology, Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoglycemia OMIM:618838
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, C... OMIM:232400
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatomegaly, Irritability, Self-mutilation, Hypoalbuminemia, Pericarditis, L... OMIM:619487
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Hepatomegaly, Abnormal cardiomyocyte morphology, Hypo... ORPHA:367
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Pericardial effusion ORPHA:90362
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Hepatomegaly, Emotional lability, Hyperbi... ORPHA:88673
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Hepatomegaly, Decreased plasma free carnitine, Ventricular hypertrophy, Left ventri... OMIM:619048
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hypoalbu... OMIM:619055
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocarditis, Hypophosp... ORPHA:31824
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Postprandial hyperglycemia ORPHA:2089
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Hyperkalemia, Hypertrophic cardiomyopathy ORPHA:361
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron, Abnormality of ... OMIM:231100
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypoalbuminemia, Hypert... ORPHA:540
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypok... OMIM:255120
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hypoglycemia, Hyperam... OMIM:618120
Hepatoportal Sclerosis
Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Atrial septal defect, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, H... OMIM:617303
Timothy Syndrome
Tetralogy of Fallot, Hypoglycemia, Patent foramen ovale, Hypocalcemia, Ventricular septal defect,... OMIM:601005
Whipple Disease
Hyponatremia, Insulin resistance, Splenomegaly, Myocarditis, Hepatomegaly, Pericarditis ORPHA:3452
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal cardiac atrium morphology, Hypertrophic card... ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Decreased serum zinc, Decreased serum iron, Anxiety, Decreased plasma car... ORPHA:89842
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
Hartsfield Syndrome
Hypernatremia OMIM:615465
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Biventricular hypertrophy, Recurrent hypoglycemia, Muscular v... ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Hypoalbuminemia ORPHA:67
Legionnaires Disease
Hyponatremia, Splenomegaly, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Pericardial effusion OMIM:212065
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Cardiomegaly, L... OMIM:617713
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Snakebite Envenomation
Hyponatremia ORPHA:449285
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Splenomegaly, Hypoalbuminemia, Hypomagnesemia, Ty... ORPHA:37042
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cardiomyopathy, Diabete... OMIM:235200
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Myocarditis, Elevated circulating cr... ORPHA:36234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hypoglycemia, Hyponatremia ORPHA:90790
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Hypermethioninemia, Hepatomegaly, Pulmonic stenosis, Abnormality of iron hom... OMIM:222470
Abetalipoproteinemia
Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperbilirubinemia, H... ORPHA:14
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Hyperuricemia, Type I diabetes mellitus ORPHA:199299
Mirage Syndrome
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:617053
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Porphyria Variegata
Anxiety, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypoalbuminemia, Pericardial lymphangiectasia, P... OMIM:235510
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:95409
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentra... OMIM:212138
Alg8-Cdg
Hyponatremia ORPHA:79325
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemi... ORPHA:411634
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:613027
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Hypertrophic car... ORPHA:505248
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Early-Onset Schizophrenia
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability, Irritability, Abnorm... ORPHA:96369
Shigellosis
Abnormal blood ion concentration, Hypoglycemia, Myocarditis, Hyponatremia ORPHA:810
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Aggres... ORPHA:99826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Irritability, Unconjuga... ORPHA:90038
Infant Botulism
Hyponatremia ORPHA:178478
Addison Disease
Hypoglycemia, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyper... ORPHA:85138
Pituitary Apoplexy
Hypoglycemia, Hyponatremia ORPHA:95613
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy, Hyperammonemia OMIM:616483
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Hepatomegaly, Low plasma citrulline OMIM:261680
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Hepatomegaly, E... OMIM:201475
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Diabetes mellitus, Hypophosphatemia OMIM:616026
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Hypoalbuminemia, Reduced circulating transferrin concentration, Hypoch... ORPHA:90363
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:289548
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... ORPHA:167
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Emotional lability, ... ORPHA:89938
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Hypoglycemia, Hyponatremia, Ventricular... ORPHA:2162
Sheehan Syndrome
Hypoglycemia, Hyponatremia ORPHA:91355
Acute Intermittent Porphyria
Anxiety, Hyponatremia ORPHA:79276
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hypoalbuminemia, Type I diabetes mellitus ORPHA:171
Juvenile Polyposis Of Infancy
Atrial septal defect, Abnormal heart morphology, Hypoalbuminemia ORPHA:79076
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Hepatomegaly, Decr... OMIM:219800
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyperuricemia, Irritabil... ORPHA:348
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia OMIM:613658
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Hypertrophic cardiomyopathy, ... ORPHA:85451
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Self-injurious behavior, Aggressive behavior, Emotional lability, H... ORPHA:293987
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Diabetes mellitus ORPHA:544482
Adenohypophysitis
Hyponatremia ORPHA:95512
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Panhypophysitis
Hyponatremia ORPHA:95513
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Hypercholesterolemia, Hyperkalemia, Hypertriglyceridemia ORPHA:275761
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Familial Dysautonomia
Hyponatremia ORPHA:1764
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Patent foramen ovale, Elevated circulating creatini... OMIM:619534
Japanese Encephalitis
Hyponatremia ORPHA:79139
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperalaninemia, Hyperammonemia OMIM:615751
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating NT-proBNP concentration, Abnormal A-type atrial n... ORPHA:57777
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Self-injurious behavior, Anxiety,... ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Splen... ORPHA:731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hyponatremia, Hypochloremia ORPHA:90794
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Neonatal hypoglycemia, Cardiomyopathy OMIM:261740
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Hypoglycemia, Hypophosphatemic rickets, Hypertrophic... OMIM:276700
Visceral Steatosis, Congenital
Hypocalcemia, Hypoglycemia, Myocardial steatosis OMIM:228100
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypokalemia, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets,... ORPHA:3337
Pmm2-Cdg
Insulin resistance, Hyperinsulinemia, Hypertrophic cardiomyopathy, Hypoalbuminemia, Pericarditis,... 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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