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Genes Phenotypes Help, News, Blog

Gene: Pcolce MGI:105099

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
procollagen C-endopeptidase enhancer protein
Synonyms:
Astt2,  Astt-2

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.

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.

Phenotype associated images not available

Human diseases caused by Pcolce 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 Pcolce by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... ORPHA:3416
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, 2-3 f... ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... ORPHA:2790
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... OMIM:265900
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... ORPHA:2635
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Slender long bone, Ab... ORPHA:1486
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility OMIM:300831
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Gorham-Stout Disease
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bon... ORPHA:73
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing OMIM:615066
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Knee flexion contract... OMIM:609220
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Mic... ORPHA:3206
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... ORPHA:2796
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta... ORPHA:2658
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... ORPHA:1652
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... ORPHA:2769
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Gm1-Gangliosidosis, Type Ii
Limb undergrowth, Joint stiffness, Thin bony cortex, Coxa valga OMIM:230600
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... OMIM:614856
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Aplasia/hypoplasia... ORPHA:221016
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... OMIM:249420
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Metaphyseal sclero... ORPHA:221008
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Long fingers... OMIM:309583
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Calcinosis, Aplasia/Hypo... ORPHA:2909
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral... OMIM:616723
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... ORPHA:666
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... OMIM:608328
Stuve-Wiedemann Syndrome 1
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Os... OMIM:601559
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Micromelia, Macroglossia, Abnormal epip... ORPHA:1798
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... OMIM:166200
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... OMIM:166220
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... OMIM:231070
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Sternocleidomastoid amyotrophy, Small hand, Short foot, Thickened cortex of long bone... ORPHA:488434
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Limited elbow exte... OMIM:618019
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,... OMIM:600920
Sclerosteosis 1
Syndactyly, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cr... OMIM:269500
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... OMIM:127000
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Subperiosteal bo... OMIM:618188
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Macroglossia, Arthritis, Abnormal cortical bone mor... ORPHA:93
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... OMIM:269150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex OMIM:613658
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... OMIM:304120
17Q11 Microdeletion Syndrome
Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia,... ORPHA:97685

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 Pcolce

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 Pcolce.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of Procollagen C-Proteinase Enhancer 1 in Mice has No Major Impact on Cardiac Collagen and Function Under Basal Conditions. Journal of cardiovascular pharmacology (November 2021) Pcolcetm1c(EUCOMM)Wtsi Pcolcetm1a(EUCOMM)Wtsi 34369899

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MGI Allele Allele Type Produced
Pcolcetm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pcolcetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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