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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
abnormal bone mineralization Epc1tm1e(EUCOMM)Wtsi HET   Early adult 2.41×10-06
increased total body fat amount Epc1tm1e(EUCOMM)Wtsi HET   Early adult 5.28×10-06
preweaning lethality, incomplete penetrance Epc1tm1e(EUCOMM)Wtsi HOM   Early adult 0.00
decreased leukocyte cell number Epc1tm1e(EUCOMM)Wtsi HET Early adult 4.37×10-05
decreased body weight Epc1tm1e(EUCOMM)Wtsi HOM Early adult 2.45×10-13
increased lactate dehydrogenase level Epc1tm1e(EUCOMM)Wtsi HET Early adult 7.15×10-06
increased lean body mass Epc1tm1e(EUCOMM)Wtsi HET   Early adult 6.91×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Ingui... ORPHA:1901
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnormal adipose tissue ... ORPHA:93160
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:89937
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Failure to thrive, Splenomegaly OMIM:211600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Thin bony co... OMIM:600081
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Osteomalacia, Le... ORPHA:289157
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypophosphatemic rickets, Sparse bon... OMIM:241530
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Enamel hypop... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Enamel hypop... OMIM:277440
Infantile Systemic Hyalinosis
Osteopenia, Failure to thrive, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased ... ORPHA:2176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Enamel hypomineralization, O... OMIM:307800
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets, Failure to thrive OMIM:607765
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Macrocytic anemia, Weight loss, Iron deficiency anemia, Enamel hypopl... OMIM:212750
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Generalized osteosclerosis, Tooth abscess, Art... ORPHA:89936
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Weight loss, Iron deficiency anemia, Osteoporosis ORPHA:309031
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Elevated circulat... ORPHA:1652
Cystinosis
Rickets, Failure to thrive ORPHA:213
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancytopenia, Fibrous dysplasia... ORPHA:562
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Reduced subcutaneous adipose tissue, Osteomalacia OMIM:227810
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Chondrocalcinosis, Osteomalacia OMIM:600740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Rickets OMIM:616026
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Failure to thrive ORPHA:2088
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Failure to thrive, Slender build, Pancytopenia, Inguinal hernia, Joint hyper... OMIM:613658
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Atypical scarring of skin, Keloids, Rickets, Osteomalacia, Ingu... ORPHA:198
Distal Renal Tubular Acidosis
Rickets, Failure to thrive, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures... ORPHA:18
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Rickets, Failure to thrive, Camptodactyly of finger, Path... OMIM:309000
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased proportion of naive T c... OMIM:619381
Wilson Disease
Chondrocalcinosis, Osteomalacia, Splenomegaly, Joint hypermobility, Osteoarthritis, Thrombocytope... OMIM:277900
Familial Hypocalciuric Hypercalcemia
Lipoma, Chondrocalcinosis, Osteomalacia ORPHA:405
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Failure to thrive, Osteomalacia, Abnormal dental enamel morphology, Um... ORPHA:534
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Cystinosis, Nephropathic
Rickets, Failure to thrive, Failure to thrive in infancy, Hypophosphatemic rickets, Splenomegaly,... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Hypomagnesemia 3, Renal
Rickets, Failure to thrive, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia OMIM:248250
Generalized Arterial Calcification Of Infancy
Osteomalacia, Failure to thrive in infancy, Hypophosphatemic rickets, Abnormal calcification of t... 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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