Gene Summary

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

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 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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
Hypertension, Growth delay, Tachycardia, Orthostatic hypotension OMIM:223900
Familial Dysautonomia
Hypertension, Growth delay, Tachycardia, Orthostatic hypotension ORPHA:1764

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Placental Insufficiency
Maternal hypertension, Preeclampsia, Eclampsia, Intrauterine growth retardation, Abnormal placent... ORPHA:439167
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Atrioventricula... OMIM:115197
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertro... OMIM:239850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Low posterior hairline, Severe intrauterine growth retardation, Clinod... ORPHA:73272
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure, Pallor,... ORPHA:163596
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Polydactyly, Syndactyly, Intrauterine growth retardation, Small placenta, Clinod... ORPHA:397590
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Microcephaly, Abnormal cardiac septum morphology, Short neck OMIM:608776
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Tricuspid regurgitation, Pulmonic stenosis, Cong... ORPHA:2414
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Pericardial Effusion, Chronic
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis OMIM:260900
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Persistent left superior vena cava, Intrauterine... OMIM:618775
Cyclic Vomiting Syndrome
Microcephaly, Growth delay, Pallor, Cardiomyopathy OMIM:500007
Alkuraya-Kucinskas Syndrome
Cystic hygroma, Aplasia/Hypoplasia of the corpus callosum, Webbed neck, Pericardial effusion, Ede... OMIM:617822
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Atrial septal defect, Pachygyria, Ventricular septal defect, Lymphedem... OMIM:235510
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Fanconi Anemia, Complementation Group I
Atrial septal defect, Colpocephaly, Patent foramen ovale, Absent septum pellucidum, Ventricular s... OMIM:609053
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Neu-Laxova Syndrome 1
Polyhydramnios, Rocker bottom foot, Spina bifida, Short umbilical cord, Toe syndactyly, Stillbirt... OMIM:256520
Retinitis Pigmentosa 60
Pallor OMIM:613983
Drug-Induced Lupus Erythematosus
Petechiae, Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Rocker bottom foot, Camptodactyly of finger, Short umbilical cord, Stillbirth, Fe... OMIM:208150
Retinitis Pigmentosa 81
Pallor OMIM:617871
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Optic Atrophy 9
Pallor OMIM:616289
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion,... ORPHA:36412
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
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial effusion, Fetal ascit... ORPHA:292
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Webbed neck, Pericardial effusion, Redundant skin, Umbilical hernia, Ca... ORPHA:536532
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Short statur... ORPHA:1131
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Pericardial effu... ORPHA:199241
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Aymé-Gripp Syndrome
Pericarditis, Hypoplasia of the corpus callosum, Pericardial effusion, Patent ductus arteriosus, ... ORPHA:1272
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pallor OMIM:606353
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Pallor, Cardiomyopathy ORPHA:3386
Optic Atrophy 1
Pallor OMIM:165500
Histiocytoid Cardiomyopathy
Right bundle branch block, Hydrocephalus, Ventricular septal defect, Wolff-Parkinson-White syndro... ORPHA:137675
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Pericardial effusion, Abnormal lymphatic vessel morphology... ORPHA:464329
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Camptodactyly, Tapered finger, Branchial cyst ORPHA:435938
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Abnormality of the pituitary gland, Increased circulating g... ORPHA:91347
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Gaucher Disease Type 1
Pericardial effusion, Growth delay, Pedal edema, Delayed puberty, Ascites, Pulmonary arterial hyp... ORPHA:77259
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Q Fever
Endocarditis, Pericarditis, Purpura, Abnormal heart valve morphology, Pleural effusion, Pericardi... ORPHA:781
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, ... OMIM:139210
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Raynaud phenomenon ORPHA:93552
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Osteolytic defects of the distal phalanges of ... ORPHA:50815
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema, Hypertension ORPHA:79126
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Poems Syndrome
Pleural effusion, Pericardial effusion, Edema, Increased circulating prolactin concentration, Asc... ORPHA:2905
Retinitis Pigmentosa 70
Pallor OMIM:615922
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mosaic Trisomy 16
Maternal diabetes, Short forearm, Preeclampsia, Large placenta, Patent ductus arteriosus, Craniof... ORPHA:1708
Restrictive Dermopathy
Polyhydramnios, Camptodactyly of finger, Short umbilical cord, Webbed neck, Large placenta, Paten... ORPHA:1662
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Cerebral atrophy, Pallor OMIM:613839
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Overlapping toe, Camptodactyly, Large placenta, Umbilical hernia, Redundant neck ... ORPHA:254528
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Coloboma, Branchial anomaly, Abnormal heart morphology, Ven... ORPHA:453499
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion, Hypertension, Vascular ... OMIM:108050
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Ia
Microcephaly, Pericardial effusion, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:212065
Gitelman Syndrome
Palpitations, Pericardial effusion, Low-to-normal blood pressure, Prominent U wave, ST segment de... ORPHA:358
Hennekam Syndrome
Delayed eruption of teeth, Hydrops fetalis, Pachygyria, Lymphedema, Pericardial effusion, Mild po... ORPHA:2136
Holoprosencephaly
Panhypopituitarism, Chorioretinal coloboma, Arrhythmia, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2162
Meckel Syndrome, Type 1
Natal tooth, Patent ductus arteriosus, Anencephaly, Breech presentation, Short neck, Hydrocephalu... OMIM:249000
Breath-Holding Spells
Pallor OMIM:607578
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Pericardial effusion, Cerebral calcific... ORPHA:51608
Retinitis Pigmentosa 73
Pallor OMIM:616544
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Ascites, Chylothorax, Pulmonary lymphangiomyomatosis, Hy... ORPHA:538
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Rare Circulatory System Disease
Arterial tortuosity, Intermittent claudication, Abnormal vascular morphology, Arterial calcificat... ORPHA:98028
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Delayed puberty, Pallor OMIM:600462
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Dominant Beta-Thalassemia
Arrhythmia, Growth delay, Hypopituitarism, Delayed puberty, High-output congestive heart failure,... ORPHA:231226
Myoclonus, Intractable, Neonatal
Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Dravet Syndrome
Dysgenesis of the hippocampus, Limited neck range of motion, Pallor ORPHA:33069
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Hemifacial Microsomia
Agenesis of corpus callosum, Branchial anomaly, Ventricular septal defect, Patent ductus arterios... OMIM:164210
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Kagami-Ogata Syndrome
Polyhydramnios, Webbed neck, Large placenta, Premature birth, Short neck, Coxa valga ORPHA:254519
Bor Syndrome
Branchial cyst ORPHA:107
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Pallor ORPHA:536516
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Webbed neck, Tricuspid stenosis, Congestive hear... OMIM:105650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dehydration, Edema, Cardiac arrest, Leukoencephalopathy, Dilated cardiomyopathy, Mic... ORPHA:20
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Optic disc coloboma, Branchial fistula, Webbed neck, Palpebral edema, ... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Fanconi Anemia, Complementation Group D2
Anemic pallor, Agenesis of corpus callosum, Abnormal heart morphology, Hypoplasia of the corpus c... OMIM:227646
Beta-Thalassemia Major
Arrhythmia, Growth delay, Hypopituitarism, Delayed puberty, High-output congestive heart failure,... ORPHA:231214
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Hypotensi... ORPHA:95613
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Intracranial hemorrhage ORPHA:3226
Trichohepatoenteric Syndrome 1
Polyhydramnios, Thrombocytosis, Large placenta, Abnormalities of placenta or umbilical cord, Incr... OMIM:222470
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Growth delay, Abnormal pulmonary valve morphology, Pulmonary artery st... ORPHA:667
Panhypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormality of the posteri... ORPHA:95513
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Sudden cardiac death, Congestive heart failure, Pulmonary edema, Dilated ca... ORPHA:73224
Sheehan Syndrome
Panhypopituitarism, Palpitations, Orthostatic hypotension, Pituitary hypothyroidism, Bradycardia,... ORPHA:91355
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Truncus arteriosus, Branchial fistula, Short palm, Bowin... ORPHA:261330
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Pallor OMIM:246450
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Adenohypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormal thalamic MRI sign... ORPHA:95512
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Pedal edema, Epistaxis, Congestive heart ... ORPHA:33226
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Restrictive Dermopathy, Lethal
Polyhydramnios, Rocker bottom foot, Short umbilical cord, Premature rupture of membranes, Stillbi... OMIM:275210
Oligomeganephronia
Branchial cyst, Optic disc coloboma, Secundum atrial septal defect, Hypertension, Pulmonary venou... ORPHA:2260
Fumarase Deficiency
Open operculum, Cerebral atrophy, Polymicrogyria, Microcephaly, Pallor, Agenesis of corpus callosum OMIM:606812
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Chédiak-Higashi Syndrome
Pleural effusion, Pericardial effusion, Edema, Epistaxis ORPHA:167
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Webbed neck, Growth d... ORPHA:124
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Atrial septal defect, Agenesis of corpus callosum, Coloboma, Branchial anomaly, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Atrial septal defect, Agenesis of corpus callosum, Coloboma, Branchial anomaly, A... ORPHA:352665
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Aniridia, Hypertension associated with pheochromocytoma, Positive regitine blocking... ORPHA:29072
Sepsis In Premature Infants
Purpura, Hypotension, Bradycardia, Petechiae, Tachycardia, Edema, Pallor ORPHA:90051
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent fingertip pads, Brachydactyly, Branchial anomaly, Short palm ORPHA:466950
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Tachycardia ORPHA:90033
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Prolactinoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Anterior h... ORPHA:2965
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Camptodactyly, Spinal dysraphism, Metatarsus adductus, Premature birth, Clinodact... ORPHA:96334
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Esophageal Atresia
Polyhydramnios, Coloboma, Ventricular septal defect, Growth delay, Coarctation of aorta, Tetralog... ORPHA:1199
Myopathy, Mitochondrial, And Ataxia
Growth delay, Increased circulating prolactin concentration, Short stature, Pallor OMIM:617675
Retinitis Pigmentosa 51
Pallor OMIM:613464
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Dehydration, Abnormal T-wave, Pallor, Cardiomyopathy ORPHA:2131
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Dehydration, Edema, Pallor ORPHA:134
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Cerebral artery stenosis, Pulmonary embolism, Myocardial infarction, Pulmonary a... ORPHA:447
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Fanconi Anemia, Complementation Group E
Anemic pallor, Microcephaly, Short stature, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Microcephaly, Short stature, Abnormal heart morphology OMIM:227650
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Short stature, Intrauterine growth retardation, Microce... OMIM:227645
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Pedal edema, Retinal hemorrhage ORPHA:86839
Treacher-Collins Syndrome
Hypoplasia of the thymus, Branchial fistula, Patent ductus arteriosus ORPHA:861
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Cold Agglutinin Disease
Pallor ORPHA:56425
Incontinentia Pigmenti
Delayed eruption of teeth, Erythema, Retinal hemorrhage, Short stature, Microcephaly, Pallor OMIM:308300
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Melena ORPHA:98870
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Polymicro... OMIM:253280
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Limitation of neck motion, Lipomyelomenin... ORPHA:268810
Hereditary Folate Malabsorption
Pallor, Cerebral calcification ORPHA:90045
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Pallor, Syncope ORPHA:98849
Irida Syndrome
Pallor ORPHA:209981
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Myelofibrosis
Pallor, Purpura OMIM:254450
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Pleural empyema, Hypertension, Edema, Myocarditis, Generalized edema, Pallor ORPHA:544482
Beckwith-Wiedemann Syndrome
Polyhydramnios, Polycythemia, Large placenta, Umbilical hernia, Subchorionic septal cyst, Prematu... ORPHA:116
Retinitis Pigmentosa 75
Pallor OMIM:617023
8Q24.3 Microdeletion Syndrome
Branchial cyst, Patent ductus arteriosus, Spina bifida occulta, Short neck, Truncus arteriosus, R... ORPHA:508488
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Edema, Hematochezia ORPHA:329971
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Elliptocytosis 1
Pallor OMIM:611804
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Pallor, Hypertension associated with pheochromocytoma ORPHA:653
Branchiooculofacial Syndrome
Preaxial hand polydactyly, Short neck, Low posterior hairline, Branchial anomaly, Short thumb, In... OMIM:113620
Aregenerative Anemia
Pallor ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Pmm2-Cdg
Elevated circulating growth hormone concentration, Pericarditis, Anasarca, Lymphedema, Angina pec... ORPHA:79318
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Growth delay, Tachycardia, Orthostatic hypotension OMIM:223900
Familial Dysautonomia
Hypertension, Growth delay, Tachycardia, Orthostatic hypotension ORPHA:1764

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
Elp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elp1tm36168(L1L2_Bact_P) Targeting vectors

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