Gene Summary

Name:
enhancer of polycomb homolog 1
Synonyms:
5730566F07Rik,  2400007E14Rik,  A930032N02Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Epc1tm1e(EUCOMM)Wtsi HET Early adult 4.37×10-05
decreased body weight Epc1tm1e(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral density Epc1tm1e(EUCOMM)Wtsi HET   Early adult 8.47×10-05
increased lactate dehydrogenase level Epc1tm1e(EUCOMM)Wtsi HET Early adult 7.15×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

View all 66 images

View all 6 images

Human diseases caused by Epc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Epc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... OMIM:231095
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Dysplastic Cortical Hyperostosis
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Anemia, Splenomegaly, Arthritis ORPHA:37748
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Cranial hyperosto... OMIM:259710
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Anemia, Abnormal leuko... ORPHA:53
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Pathologic fracture, ... ORPHA:77259
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Hepatosplenomegaly, Di... OMIM:259730
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, E... ORPHA:289176
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly... OMIM:259720
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Increased bone mineral density, Anemia, Sclerosis of ... OMIM:131300
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Increased susceptibil... ORPHA:77261
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Polycythemia, Sclerosis of foot bone, Sclerosis of skull ... ORPHA:2905
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Trichothiodystrophy
Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Neutropenia, Increased bon... ORPHA:33364
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Tooth abscess, Generalized osteosclerosis, Enthesitis, Reduced bone mi... ORPHA:89936
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Desmosterolosis
Splenomegaly, Osteopetrosis, Increased bone mineral density ORPHA:35107
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Increased bone mine... ORPHA:800
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90652
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
Kenny-Caffey Syndrome, Type 2
Anemia, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Erdheim-Chester Disease
Osteolysis, Osteomyelitis, Anemia, Increased bone mineral density ORPHA:35687
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Ectopic ossification, Hyperostosis frontalis interna, Increased bon... ORPHA:79443
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density ORPHA:79444
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Desmosterolosis
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand OMIM:602398
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Autosomal Recessive 7
Anemia, Osteopetrosis, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... ORPHA:79474
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Williams Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Synostosis of joints, Joint hyperflexibility, ... ORPHA:904
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bone mineral density, Anemia, Splen... ORPHA:667
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Splenopancreatic fusion, Thickened cort... OMIM:269150

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 Epc1

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 Epc1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Epc1tm1e(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Epc1tm1aWtsi PMC6459510
Optimising experimental design for high-throughput phenotyping in mice: a case study. Mammalian genome : official journal of the International Mammalian Genome Society (August 2010) Epc1tm1a(EUCOMM)Wtsi PMC2974211

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Epc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice
Epc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter