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Gene: Epc1 MGI:1278322

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

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
increased lean body mass Epc1tm1e(EUCOMM)Wtsi HET   Early adult 6.91×10-05
decreased leukocyte cell number Epc1tm1e(EUCOMM)Wtsi HET Early adult 4.37×10-05
abnormal bone mineralization Epc1tm1e(EUCOMM)Wtsi HET   Early adult 2.41×10-06
increased lactate dehydrogenase level Epc1tm1e(EUCOMM)Wtsi HET Early adult 7.15×10-06
increased total body fat amount Epc1tm1e(EUCOMM)Wtsi HET   Early adult 5.28×10-06
decreased body weight Epc1tm1e(EUCOMM)Wtsi HOM Early adult 2.45×10-13

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
Epc1tm1e(EUCOMM)Wtsi
HET, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
HET, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
HET, Female, WTSI
Epc1tm1e(EUCOMM)Wtsi
HET, Female, WTSI
Epc1tm1e(EUCOMM)Wtsi
HET, Male, WTSI

View all 66 images

Epc1tm1e(EUCOMM)Wtsi
corpus callosum, decreased corpus callosum size, HET, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
WT, Male, WTSI
Epc1tm1e(EUCOMM)Wtsi
decreased corpus callosum size, corpus callosum, HET, Male, WTSI

View all 6 images

Epc1tm1e(EUCOMM)Wtsi
tail skin, HET, Female, WTSI
Epc1tm1e(EUCOMM)Wtsi
tail skin, HET, Female, WTSI
Epc1tm1e(EUCOMM)Wtsi
tail skin, HET, Female, WTSI
Epc1tm1e(EUCOMM)Wtsi
tail skin, HET, Female, WTSI

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
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Abn... ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Osteomalacia, Rickets, Tooth abscess ORPHA:89937
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Failure to thrive, Rickets OMIM:211600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:600081
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp... OMIM:277440
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets OMIM:307800
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Rickets OMIM:607765
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, En... OMIM:212750
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Extramedullary hematopoiesis, Rickets ORPHA:79303
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia ORPHA:309031
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Dent Disease
Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed ep... ORPHA:1652
Cystinosis
Failure to thrive, Rickets ORPHA:213
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibr... ORPHA:562
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Rickets, Osteomalacia OMIM:227810
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Osteomalacia, Chondrocalcinosis OMIM:600740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Fanconi-Bickel Syndrome
Osteopenia, Failure to thrive, Rickets ORPHA:2088
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Inguinal hernia, Small for gestational ... OMIM:613658
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... ORPHA:18
Wilson Disease
Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ... OMIM:277900
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Elevated circulating creatine kinase co... OMIM:309000
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Weight loss, T ... OMIM:619381
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... ORPHA:534
Familial Hypocalciuric Hypercalcemia
Lipoma, Osteomalacia, Chondrocalcinosis ORPHA:405
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Cystinosis, Nephropathic
Failure to thrive in infancy, Splenomegaly, Rickets, Weight loss, Hypophosphatemic rickets OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... ORPHA:51608

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.

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

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