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Gene: Elp1 MGI:1914544

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Gene Summary

Name:
elongator complex protein 1
Synonyms:
IKAP,  Ikbkap,  C78473,  3110040G09Rik

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
preweaning lethality, complete penetrance Elp1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote Ambiguous
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
bone 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)
eye 0.0%
gall bladder 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%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 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)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Elp1 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.

The table below shows human diseases associated to Elp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Growth delay OMIM:223900
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension, Growth delay ORPHA:1764
Medulloblastoma
OMIM:155255

The table below shows human diseases predicted to be associated to Elp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... ORPHA:439167
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Craniofaciofrontodigital Syndrome
Polyhydramnios, Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effus... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Hydrops Fetalis
Polyhydramnios, Abnormality of the neck, Lymphedema, Pericardial effusion, Nonimmune hydrops feta... ORPHA:1041
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, St... ORPHA:90064
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Short neck, Encephalocele OMIM:613885
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Congestive heart failure, Pallor, Pericarditis, O... ORPHA:163596
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Short stature, Cardiac arrest, Congesti... ORPHA:49827
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... OMIM:261740
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Severe intrauterine growth retardation, Low posterior hairline, Small ... ORPHA:73272
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Short neck, Ascites OMIM:608776
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Pallor OMIM:613561
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Short stature, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multi... OMIM:620070
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276556
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Delayed eruption of teeth, Pericardial effusion, Lymphedema, Thyroid l... OMIM:235510
Alkuraya-Kucinskas Syndrome
Webbed neck, Pericardial effusion, Hydrocephalus, Pleural effusion, Edema, Cystic hygroma OMIM:617822
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276575
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Petechiae, Pericardial effusion ORPHA:231111
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Pericardial effusion, Left ventricular hypertrophy, Hypertension, P... OMIM:619487
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276580
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Hypocomplementemic Urticarial Vasculitis
Angioedema, Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Abnormal he... ORPHA:36412
Rheumatic Fever
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pallor, Pericar... ORPHA:3099
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Fetal Akinesia Deformation Sequence 1
Premature birth, Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Hydrocephalus, De... OMIM:208150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... ORPHA:137675
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Sho... OMIM:609053
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Growth delay, Ascites... ORPHA:90362
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Optic Atrophy 1
Pallor OMIM:165500
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Pericardial effusion, Mitral valve pr... ORPHA:536532
American Trypanosomiasis
Congestive heart failure, Pallor, Periorbital edema, Edema, Arrhythmia, Myocarditis, Cardiomyopathy ORPHA:3386
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Polyhydramnios, Fetal akinesia sequence, Broad neck, Spina bifida, Shor... OMIM:256520
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Abnormality of t... ORPHA:1131
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Delayed puberty, Growth delay... ORPHA:77259
Kaposiform Lymphangiomatosis
Abnormality of the neck, Epidural hemorrhage, Pericardial effusion, Ecchymosis, Epistaxis, Pleura... ORPHA:464329
Q Fever
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Abnormal left ventri... ORPHA:781
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Aymé-Gripp Syndrome
Patent ductus arteriosus, Short stature, Pericardial effusion, Hydrocephalus, Pericarditis, Postn... ORPHA:1272
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema ORPHA:79126
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia, Pallor ORPHA:324575
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites ORPHA:93552
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Coloboma, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia OMIM:618183
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Beta-Thalassemia
Hypertrophic cardiomyopathy, Skin ulcer, Pallor ORPHA:848
Restrictive Dermopathy
Patent ductus arteriosus, Polyhydramnios, Premature birth, Webbed neck, Natal tooth, Short umbili... ORPHA:1662
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Rhizomelia, Pericardial effusion, Abnormal left ventr... ORPHA:79328
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Hemoglobin D Disease
Pallor ORPHA:90039
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Stroke-like episode, Cardio... OMIM:212065
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Birth length less than 3rd percentile, Short... OMIM:139210
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Branchial anomaly, Ventricular s... ORPHA:453499
Breath-Holding Spells
Pallor OMIM:607578
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... ORPHA:77261
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Redundant neck skin, Large placenta, Intrauterine growth retardation, Umbilical h... ORPHA:254528
Mosaic Trisomy 16
Patent ductus arteriosus, Craniofacial asymmetry, Maternal diabetes, Large placenta, Preeclampsia... ORPHA:1708
Rare Circulatory System Disease
Arterial calcification, Intermittent claudication, Pallor, Abnormal systemic arterial morphology,... ORPHA:98028
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Holoprosencephaly
Abnormal aortic morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular sept... ORPHA:2162
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites, P... ORPHA:538
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Edema, Hemateme... OMIM:615846
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Pericardial effusion, Delayed eruption of teeth, Arteriovenous malfo... ORPHA:2136
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tricuspid re... ORPHA:99125
Tsh-Secreting Pituitary Adenoma
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv... ORPHA:91347
Bor Syndrome
Branchial cyst ORPHA:107
Evans Syndrome
Epistaxis, Syncope, Petechiae, Pallor ORPHA:1959
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Pallor ORPHA:536516
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Waldenström Macroglobulinemia
Retinal hemorrhage, Pedal edema, Purpura, Congestive heart failure, Pallor, Epistaxis, Pleural ef... ORPHA:33226
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Medial calcification of large arte... ORPHA:51608
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Delayed eruption of teeth, Hydrocephalus, Pallor, Abnormal pulmo... ORPHA:667
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Intracranial hemorrhage, Pallor ORPHA:3226
Kagami-Ogata Syndrome
Polyhydramnios, Webbed neck, Short neck, Large placenta, Premature birth ORPHA:254519
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Meckel Syndrome, Type 1
Patent ductus arteriosus, Asplenia, Splenomegaly, Webbed neck, Natal tooth, Anencephaly, Hydrocep... OMIM:249000
Autoimmune Hemolytic Anemia
Pallor, Congestive heart failure, Arrhythmia ORPHA:98375
Dravet Syndrome
Limited neck range of motion, Pallor ORPHA:33069
Diamond-Blackfan Anemia 1
Webbed neck, Ventricular septal defect, Short stature, Congestive heart failure, Atrial septal de... OMIM:105650
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor ORPHA:90037
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Dehydration, Branchial c... ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Hydrocephalus, Palpebral edema,... ORPHA:261337
Dominant Beta-Thalassemia
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay, Arrhythmia, High-outpu... ORPHA:231226
Retinitis Pigmentosa 51
Pallor OMIM:613464
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... ORPHA:73224
Greenberg Dysplasia
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Hepatosplenomegaly, Echogenic fetal b... OMIM:215140
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Short stature, Aortic aneurysm, Atrial septal defe... ORPHA:261330
Trichohepatoenteric Syndrome 1
Polyhydramnios, Abnormalities of placenta or umbilical cord, Increased mean platelet volume, Larg... OMIM:222470
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Growth delay, Pallor ORPHA:822
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Short stature, Hydrocephalus, Abnormal heart morphology, Anemic pallor,... OMIM:227646
Primary Myelofibrosis
Petechiae, Purpura, Ecchymosis, Pallor, Portal hypertension ORPHA:824
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Cardiac arrest, Dilated cardiomyopathy, Pallor, Edema, Dehydration ORPHA:20
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Pallor OMIM:600462
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Beta-Thalassemia Major
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay, Arrhythmia, High-outpu... ORPHA:231214
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, Pallor ORPHA:439218
Chédiak-Higashi Syndrome
Epistaxis, Edema, Pleural effusion, Pericardial effusion ORPHA:167
Von Hippel-Lindau Disease
Macular edema, Hypertension, Pallor, Myocardial infarction, Abnormal left ventricular function, P... ORPHA:892
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Intrauterine growth retardation, Pallor OMIM:266200
Sepsis In Premature Infants
Hypotension, Petechiae, Purpura, Pallor, Edema, Bradycardia, Tachycardia ORPHA:90051
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, C... ORPHA:3260
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Pallor ORPHA:90033
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Ventricular septal defect, Coloboma, Bicuspid aortic valve, Agenesis of corpus... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Ventricular septal defect, Coloboma, Bicuspid aortic valve, Agenesis of corpus... ORPHA:352665
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Esophageal Atresia
Polyhydramnios, Coloboma, Ventricular septal defect, Pallor, Coarctation of aorta, Growth delay, ... ORPHA:1199
Blackfan-Diamond Anemia
Webbed neck, Ventricular septal defect, Short stature, Radial artery aplasia, Nonimmune hydrops f... ORPHA:124
Restrictive Dermopathy 1
Patent ductus arteriosus, Polyhydramnios, Premature birth, Natal tooth, Short umbilical cord, Hyd... OMIM:275210
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Pallor, Edema, Dehydration ORPHA:134
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Dehydration, Cardiomyopathy ORPHA:2131
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Degcags Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, ... OMIM:619488
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Treacher-Collins Syndrome
Patent ductus arteriosus, Hypoplasia of the thymus, Branchial fistula, Encephalocele ORPHA:861
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Infancy onset short-trunk short stature,... ORPHA:508488
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Refractory Anemia With Excess Blasts
Anemic pallor, Retinal hemorrhage, Palpitations, Pedal edema ORPHA:86839
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Melena ORPHA:98870
Senior-Loken Syndrome 8
Vascular dilatation, Pallor OMIM:616307
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Cold Agglutinin Disease
Pallor ORPHA:56425
Irida Syndrome
Pallor ORPHA:209981
Fumarase Deficiency
Agenesis of corpus callosum, Pallor OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Syncope, Tachycardia, Pallor ORPHA:98849
Sheehan Syndrome
Pallor, Palpitations, Orthostatic hypotension, Bradycardia, Dry skin ORPHA:91355
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Redundant neck skin, Hepatosplenomegaly, Large placenta, Short... ORPHA:96334
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology, Short stature OMIM:600901
Myelofibrosis
Purpura, Pallor OMIM:254450
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation, Short stature, Ventricular septal defect OMIM:227645
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology, Short stature OMIM:227650
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Hypertension, Pallor, Hypertensive crisis, Edema, Myocarditis, Generalized edema ORPHA:544482
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Retinitis Pigmentosa 75
Pallor OMIM:617023
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Incontinentia Pigmenti
Retinal hemorrhage, Short stature, Delayed eruption of teeth, Pallor, Erythema OMIM:308300
Beckwith-Wiedemann Syndrome
Polyhydramnios, Splenomegaly, Polycythemia, Large placenta, Subchorionic septal cyst, Premature b... ORPHA:116
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema, Hematochezia, Growth delay ORPHA:329971
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Childhood Absence Epilepsy
Pallor ORPHA:64280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Coloboma, Pallor OMIM:253280
Pearson Marrow-Pancreas Syndrome
Dehydration, Hydrops fetalis, Erythema, Pallor OMIM:557000
Aregenerative Anemia
Pallor ORPHA:101096
Elliptocytosis 1
Pallor OMIM:611804
Craniofacial Microsomia
Patent ductus arteriosus, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Coarctatio... OMIM:164210
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations, Pallor ORPHA:653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Branchiooculofacial Syndrome
Low posterior hairline, Short neck, Branchial anomaly, Intrauterine growth retardation OMIM:113620
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Witteveen-Kolk Syndrome
Polyhydramnios, Branchial fistula, Intrauterine growth retardation OMIM:613406
Pmm2-Cdg
Lymphedema, Pericardial effusion, Intracranial hemorrhage, Angina pectoris, Pericarditis, Hypertr... ORPHA:79318
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Growth delay OMIM:223900
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension, Growth delay ORPHA:1764
Medulloblastoma
OMIM:155255

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 Elp1

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 Elp1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway. Biology open (September 2021) Elp1tm1c(KOMP)Wtsi PMC8496692
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Elp1tm1c(KOMP)Wtsi 32290105
Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility. Scientific reports (December 2019) Elp1tm1c(KOMP)Wtsi PMC6906334
Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia. Disease models & mechanisms (July 2018) Elp1tm1c(KOMP)Wtsi PMC6078410
Elongator and codon bias regulate protein levels in mammalian peripheral neurons. Nature communications (March 2018) Elp1tm1c(KOMP)Wtsi PMC5832791
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. Proceedings of the National Academy of Sciences of the United States of America (April 2017) Elp1tm1c(KOMP)Wtsi PMC5441694
The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system. Disease models & mechanisms (February 2017) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC5451171
Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. eNeuro (September 2016) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC5037323
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proceedings of the National Academy of Sciences of the United States of America (October 2013) Elp1tm1c(KOMP)Wtsi Elp1tm1a(KOMP)Wtsi PMC3831979
Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression. PLoS genetics (May 2013) Elp1tm1a(KOMP)Wtsi PMC3662645

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MGI Allele Allele Type Produced
Elp1tm36168(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elp1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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