Gene Summary

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

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

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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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
Tachycardia, Orthostatic hypotension, Hypertension, Growth delay OMIM:223900
Familial Dysautonomia
Tachycardia, Orthostatic hypotension, 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 placenta morphology, Intrauterine growth retardation, Eclampsia, Maternal hypertension, ... ORPHA:439167
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Hyperintensity of cerebral white matter on MRI, Ventricular septal d... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Right bundle bran... OMIM:115197
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cantu Syndrome
Congenital hypertrophy of left ventricle, Short neck, Patent ductus arteriosus, Lymphedema, Bicus... OMIM:239850
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Congestive heart failure, Hydrops fetalis, Polyhydramnios, Pericarditis, Pallor, O... ORPHA:163596
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Intrauterine growth retardation, Delayed eruption of teeth, Clinodactyly of the 5th... ORPHA:73272
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, E... ORPHA:397590
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Short stature, Ventricular septal... ORPHA:49827
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Congenital Disorder Of Glycosylation, Type Il
Short neck, Microcephaly, Ascites, Edema, Pericardial effusion, Abnormal cardiac septum morphology OMIM:608776
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Growth delay, Pulmonic stenosis, Pleural effusion, Pul... ORPHA:2414
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins,... OMIM:617300
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Portal hypertension, Intrauterine growth retardation, A... OMIM:619487
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion OMIM:260900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Persistent fetal circulation, Hypertrophic cardiomyopathy, Ventr... OMIM:618775
Cyclic Vomiting Syndrome
Pallor, Microcephaly, Cardiomyopathy, Growth delay OMIM:500007
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Alkuraya-Kucinskas Syndrome
Webbed neck, Cystic hygroma, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Hydrocepha... OMIM:617822
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Rheumatic Fever
Hemiballismus, Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, End... ORPHA:3099
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276556
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Delayed eruption of teeth, Atrial septal defect, Mild postnatal grow... OMIM:235510
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Short neck, Intrauterine growth retardation, Camptodactyly of finger, Rocke... OMIM:208150
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Petechiae, Pericardial effusion, Pericarditis ORPHA:231111
Fanconi Anemia, Complementation Group I
Colpocephaly, Short neck, Intrauterine growth retardation, Patent foramen ovale, Agenesis of corp... OMIM:609053
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276575
Retinitis Pigmentosa 60
Pallor OMIM:613983
Neu-Laxova Syndrome 1
Short umbilical cord, Clinodactyly, Toe syndactyly, Short neck, Intrauterine growth retardation, ... OMIM:256520
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Palpitations, Syncope, Tachycardia ORPHA:276580
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Retinitis Pigmentosa 81
Pallor OMIM:617871
Branchiogenic-Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Branchial fistula OMIM:609166
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphology, Pleural effusion, Elevated pulmo... ORPHA:199241
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Microcephaly, Short stature, Ab... ORPHA:1131
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Pleural effusion, Polyhydramnios, Cardiomyopathy, Feta... ORPHA:292
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Familial Focal Epilepsy With Variable Foci
Pallor, Polymicrogyria, Focal cortical dysplasia, Hemimegalencephaly ORPHA:98820
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Umbilical h... ORPHA:536532
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum, Arrhythmia ORPHA:29822
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy OMIM:606353
Optic Atrophy 1
Pallor OMIM:165500
Aymé-Gripp Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Short stature, Cerebr... ORPHA:1272
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Growth delay, Abnormal lymphatic vessel morphology, Pleural effusion... ORPHA:90362
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Periorbital edema, Cardiomyopathy, Pallor, Edema ORPHA:3386
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Camptodactyly, Tapered finger, Finger syndactyly ORPHA:435938
Q Fever
Abnormal heart valve morphology, Abnormal left ventricular function, Abnormal vascular morphology... ORPHA:781
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Ecchymosis, Pleural effusion, Abnormal lymphatic vessel morphology, E... ORPHA:464329
Gaucher Disease Type 1
Abnormal myocardium morphology, Growth delay, Pulmonary arterial hypertension, Pedal edema, Ascit... ORPHA:77259
Acute Interstitial Pneumonia
Pleural effusion, Hypertension, Peripheral edema, Pericardial effusion ORPHA:79126
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Alg9-Cdg
Cerebral atrophy, Right ventricular dilatation, Short neck, Progressive microcephaly, Rhizomelia,... ORPHA:79328
Tsh-Secreting Pituitary Adenoma
Pallor, Congestive heart failure, Hypotension, Elevated circulating growth hormone concentration,... ORPHA:91347
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Branchiogenic Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the... ORPHA:50815
Retinitis Pigmentosa 70
Pallor OMIM:615922
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Raynaud phenomenon, Edema, Pericardial effusion ORPHA:93552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Tachycardia, Pallor, Palpitations ORPHA:324575
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Facial erythema, Hypoplasi... ORPHA:439218
Myhre Syndrome
Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Coar... OMIM:139210
Poems Syndrome
Pleural effusion, Increased circulating prolactin concentration, Pulmonary arterial hypertension,... ORPHA:2905
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Accessory spleen, Oligohydramnios, Bowing of the long bones, Shor... OMIM:249000
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Cerebral atrophy, Secondary microcephaly OMIM:613839
Restrictive Dermopathy
Short umbilical cord, Webbed neck, Intrauterine growth retardation, Patent ductus arteriosus, Cam... ORPHA:1662
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Mosaic Trisomy 16
Clinodactyly, Craniofacial asymmetry, Intrauterine growth retardation, Patent ductus arteriosus, ... ORPHA:1708
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Cystic hygroma, Atrial septal... ORPHA:453499
Non-Functioning Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:94080
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Long toe, Large placenta, Polyhydramnios, Redundant neck skin, C... ORPHA:254528
Congenital Disorder Of Glycosylation, Type Ia
Microcephaly, Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion OMIM:212065
Holoprosencephaly
Abnormal pulmonary valve morphology, Chorioretinal coloboma, Tetralogy of Fallot, Short neck, Arr... ORPHA:2162
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Hemoglobin D Disease
Pallor ORPHA:90039
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Growth delay, M... ORPHA:77261
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Pericardia... OMIM:108050
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Greenberg Dysplasia
Toxemia of pregnancy, Micromelia, Absent distal phalanges, Brachydactyly, Nonimmune hydrops fetal... OMIM:215140
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Premature ventricular contraction, Dextrocardia, ... ORPHA:1686
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Cerebral calcification, Ventricular fibrillation, ST segm... ORPHA:358
Breath-Holding Spells
Pallor OMIM:607578
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Hydrops fetalis, Mild postnatal growth retardation, Pulmo... ORPHA:2136
Retinitis Pigmentosa 73
Pallor OMIM:616544
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Ascites, Ventricular hypertrophy... ORPHA:51608
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Lymphangioleiomyomatosis
Hydrocephalus, Chylothorax, Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Lymphede... ORPHA:538
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Microcephaly, Delayed puberty OMIM:600462
Rare Circulatory System Disease
Pallor, Abnormal vascular morphology, Vascular calcification, Arterial tortuosity, Intermittent c... ORPHA:98028
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Dravet Syndrome
Pallor, Limited neck range of motion, Dysgenesis of the hippocampus ORPHA:33069
Kagami-Ogata Syndrome
Webbed neck, Short neck, Coxa valga, Large placenta, Polyhydramnios, Premature birth ORPHA:254519
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Short stature, Growth delay OMIM:615631
Dominant Beta-Thalassemia
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Hypopituitarism, Growth... ORPHA:231226
Bor Syndrome
Branchial cyst ORPHA:107
Evans Syndrome
Syncope, Petechiae, Pallor, Epistaxis ORPHA:1959
Myoclonus, Intractable, Neonatal
Pallor, Microcephaly, Progressive leukoencephalopathy OMIM:617235
Myopathic Ehlers-Danlos Syndrome
Pallor, Congenital muscular torticollis ORPHA:536516
Diamond-Blackfan Anemia 1
Webbed neck, Short neck, Intrauterine growth retardation, Congestive heart failure, Atrial septal... OMIM:105650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Delayed eruption of teeth, Growth delay, Pulmonary arterial ... ORPHA:667
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Tricuspid regurgitation, Tricuspid valve prolapse, Palpebr... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Hypertension, Secundum atrial septal defect, Dehydrat... ORPHA:2260
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Coxa valga, Intrauterine growth retardation, Camptodact... ORPHA:261330
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension, Dehydration, Microcephaly, Pallor, Leukoence... ORPHA:20
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure ORPHA:90037
Beta-Thalassemia Major
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Hypopituitarism, Growth... ORPHA:231214
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Anemic pallor, Agenesis of corpus callosum, Patent ductus arte... OMIM:227646
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Hypotension, El... ORPHA:95613
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Pericardial effusion, Pul... ORPHA:73224
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Thrombocytosis, Large placenta, Polyhydramnios, Abnormalities of... OMIM:222470
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Orthostatic hypotension, Abnormality of the ... ORPHA:95513
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema, Intracranial hemorrhage ORPHA:3226
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Pleural effusion, Peri... ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly, Abnormal cerebral white matter morphology OMIM:246450
Hereditary Spherocytosis
Pallor, Skin ulcer, Restrictive cardiomyopathy, Growth delay ORPHA:822
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Orthostatic hypotension, Pallor, Abnormal si... ORPHA:91355
Non-Functioning Pituitary Adenoma
Central diabetes insipidus, Panhypopituitarism, Hypopituitarism, Hypotension, Anterior hypopituit... ORPHA:91349
Adenohypophysitis
Gonadotropin deficiency, Orthostatic hypotension, Abnormal size of pituitary gland, Abnormal thal... ORPHA:95512
Restrictive Dermopathy 1
Short umbilical cord, Premature rupture of membranes, Intrauterine growth retardation, Patent duc... OMIM:275210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cystic hygroma, Atrial septal def... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cystic hygroma, Atrial septal def... ORPHA:352665
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:276621
Primary Myelofibrosis
Petechiae, Portal hypertension, Ecchymosis, Pallor, Purpura ORPHA:824
Fumarase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Open operculum, Microcephaly, Pallor, Polymicrogyria OMIM:606812
Chédiak-Higashi Syndrome
Epistaxis, Edema, Pleural effusion, Pericardial effusion ORPHA:167
Blackfan-Diamond Anemia
Webbed neck, Radial artery aplasia, Short neck, Atrial septal defect, Nonimmune hydrops fetalis, ... ORPHA:124
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Sepsis In Premature Infants
Petechiae, Pallor, Hypotension, Bradycardia, Tachycardia, Edema, Purpura ORPHA:90051
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Branchial anomaly, Short palm, Prominent fingertip pads ORPHA:466950
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:29072
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Tachycardia, Congestive heart failure ORPHA:90033
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Tachycardia ORPHA:263455
Retinitis Pigmentosa 51
Pallor OMIM:613464
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Vasculitis in the skin, Angioedema, Congestive heart failure, Myocardial ... ORPHA:3260
Esophageal Atresia
Tetralogy of Fallot, Growth delay, Coarctation of aorta, Coloboma, Polyhydramnios, Ventricular se... ORPHA:1199
Prolactinoma
Hypotension, Anterior hypopituitarism, Adrenocorticotropic hormone deficiency, Elevated circulati... ORPHA:2965
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Short tibia, Short 1st metacarpa... ORPHA:96334
Degcags Syndrome
Intrauterine growth retardation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal de... OMIM:619488
Von Hippel-Lindau Disease
Pallor, Arrhythmia, Abnormal left ventricular function, Myocarditis, Myocardial infarction, Macul... ORPHA:892
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Dehydration, Cardiac conduction abnormality, Cardiomyopathy, Pallor ORPHA:2131
Myopathy, Mitochondrial, And Ataxia
Pallor, Short stature, Growth delay, Increased circulating prolactin concentration OMIM:617675
Beta-Ketothiolase Deficiency
Hypotension, Dehydration, Hypertension, Pallor, Edema ORPHA:134
Treacher-Collins Syndrome
Hypoplasia of the thymus, Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Fanconi Anemia, Complementation Group E
Microcephaly, Abnormal heart morphology, Short stature, Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Microcephaly, Abnormal heart morphology, Short stature, Anemic pallor OMIM:227650
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation, Microcephaly, Short stature, Ventricular septal d... OMIM:227645
Refractory Anemia With Excess Blasts
Palpitations, Pedal edema, Anemic pallor, Retinal hemorrhage ORPHA:86839
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Melena ORPHA:98870
Cold Agglutinin Disease
Pallor ORPHA:56425
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Tachycardia ORPHA:348
Hereditary Folate Malabsorption
Pallor, Cerebral calcification ORPHA:90045
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Skin ulcer, Pallor, High-output congestive heart failure ORPHA:231222
Incontinentia Pigmenti
Delayed eruption of teeth, Retinal hemorrhage, Erythema, Microcephaly, Short stature, Pallor OMIM:308300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Tachycardia, Pallor, Hypotension ORPHA:98849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Coloboma, Pachygy... OMIM:253280
Irida Syndrome
Pallor ORPHA:209981
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Myelofibrosis
Pallor, Purpura OMIM:254450
Imerslund-Gräsbeck Syndrome
Pallor, Tachycardia ORPHA:35858
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension, Pallor, Edema, Generalized edema, Pleural empyema ORPHA:544482
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Atrioventricular canal defect, Hypoplasti... ORPHA:508488
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Splenomegaly, Large placenta, Polyhydramnios, Polycythemia, Premature b... ORPHA:116
Retinitis Pigmentosa 75
Pallor OMIM:617023
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Growth delay, Edema ORPHA:329971
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Letterer-Siwe Disease
Pallor OMIM:246400
Elliptocytosis 1
Pallor OMIM:611804
Pearson Marrow-Pancreas Syndrome
Pallor, Hydrops fetalis, Erythema, Dehydration OMIM:557000
Craniofacial Microsomia
Tetralogy of Fallot, Agenesis of corpus callosum, Patent ductus arteriosus, Occipital encephaloce... OMIM:164210
Aregenerative Anemia
Pallor ORPHA:101096
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Clinodactyly of the 5th finger, Short thumb, Preaxia... OMIM:113620
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Pallor, Palpitations ORPHA:653
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Pmm2-Cdg
Anasarca, Hypertrophic cardiomyopathy, Elevated circulating growth hormone concentration, Increas... ORPHA:79318
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Orthostatic hypotension, Hypertension, Growth delay OMIM:223900
Familial Dysautonomia
Tachycardia, Orthostatic hypotension, 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 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Elp1 is required for development of visceral sensory peripheral and central circuitry. Disease models & mechanisms (May 2022) Elp1tm1c(KOMP)Wtsi PMC9187870
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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