Gene Summary

Name:
calcium binding and coiled-coil domain 2
Synonyms:
2410154J16Rik,  Ndp52l1,  Ndp52

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
abnormal pelvic girdle bone morphology Calcoco2tm1(KOMP)Wtsi HOM   Early adult 2.18×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 84 images

Human diseases caused by Calcoco2 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 Calcoco2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Dysplasia Of The Hip 1
Congenital hip dislocation, Acetabular dysplasia OMIM:142700
Upington Disease
Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia of the hip, Flat capital femoral ... ORPHA:3408
Upington Disease
Flattened femoral head, Broad femoral neck, Arthralgia of the hip OMIM:191520
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Coxopodopatellar Syndrome
Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... ORPHA:1509
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Finger syndactyly ORPHA:1891
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Hip dysplasia, Acetabular dysplasia, Genu valgum OMIM:613618
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... OMIM:142669
Distal Arthrogryposis Type 1
Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... ORPHA:1146
Auriculoosteodysplasia
Hip dysplasia, Dislocated radial head OMIM:109000
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch OMIM:271620
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... OMIM:607078
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... OMIM:250460
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hip dislocation, Hip dysplasia, Hammertoe ORPHA:370943
Hypochondroplasia
Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Bra... OMIM:146000
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the ... OMIM:611497
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormality of pelvic girdle bone mo... ORPHA:2370
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology ORPHA:2206
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... ORPHA:2725
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormality of pelvic girdle bone morphology, Thickene... OMIM:144750
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology ORPHA:1508
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abnormality of the metaphy... ORPHA:429
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Slender long bone ORPHA:1506
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Hip dislocation, Short me... ORPHA:968
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Hypoplasia of the radius, Finger syndactyly, Femoral bowing, Hypop... OMIM:228930
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology, Brachydactyly, Camptodac... ORPHA:2928
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Thoracomelic Dysplasia
Diaphyseal thickening, Abnormality of the metaphysis, Genu valgum, Abnormality of fibula morpholo... ORPHA:1803
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, San... OMIM:256050
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones OMIM:607634
Pycnodysostosis
Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... OMIM:265800
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormality of femur morphology, Finger syndactyly, Abnormality of pelvic gird... ORPHA:3429
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... OMIM:123000
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Femoral-Facial Syndrome
Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormality of pelvic girdle bone mor... ORPHA:1988
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Hyperextensibilit... OMIM:610967
Grant Syndrome
Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... ORPHA:2097
Isolated Epispadias
Abnormality of pelvic girdle bone morphology ORPHA:93928
Moebius Syndrome
Lower limb undergrowth, Aplasia/Hypoplasia involving the metacarpal bones, Split hand, Radial dev... OMIM:157900
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology OMIM:166600
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Finger syndactyly, Aplas... ORPHA:1788
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Stippled calcification proximal humeral epiphyses, ... OMIM:222765
Codas Syndrome
Abnormality of epiphysis morphology, Congenital hip dislocation, Short metacarpal, Abnormality of... ORPHA:1458
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... ORPHA:1422
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morphology OMIM:602080
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Abnormality of pelvic girdle bone morphology, Tibial bowing, Broad long bones OMIM:166210
Cleidocranial Dysplasia
Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... ORPHA:1452
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... ORPHA:1112
Harrod Syndrome
Abnormality of pelvic girdle bone morphology, Arachnodactyly, Abnormal shoulder morphology ORPHA:2115
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Metaphyseal widening, Short palm, Femoral bowing, Abnormality of pelvic gi... OMIM:250250
Sclerosteosis 1
Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Cortica... OMIM:269500
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... OMIM:302960
Bladder Exstrophy And Epispadias Complex
Abnormality of pelvic girdle bone morphology OMIM:600057
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... OMIM:224690
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... ORPHA:175
Spastic Paraplegia 9A, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Caudal Regression Sequence
Abnormal iliac wing morphology, Abnormality of pelvic girdle bone morphology ORPHA:3027
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... ORPHA:1328
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, Carpal synostosis, Sh... OMIM:272460
Saethre-Chotzen Syndrome
Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... OMIM:101400

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 Calcoco2

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 Calcoco2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Calcoco2tm1(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Calcoco2tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Calcoco2tm1(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Calcoco2tm1(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Calcoco2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Calcoco2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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