Gene Summary

Name:
chondroitin polymerizing factor
Synonyms:
D1Bwg1363e,  1700028N03Rik

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 femur morphology Chpftm1b(EUCOMM)Hmgu HOM   Early adult 7.04×10-06
short tibia Chpftm1b(EUCOMM)Hmgu HOM Early adult 1.59×10-08

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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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Chpf 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 Chpf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality... ORPHA:2768
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Tibial Hemimelia
Absent tibia OMIM:275220
Metaphyseal Dysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Metaphyseal sclerosi... OMIM:250400
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Prenatal Bowing
Bowing of the long bones OMIM:264050
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... OMIM:609324
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... OMIM:607078
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Ir... OMIM:609325
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes equinovarus, Epiphyseal d... OMIM:226900
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long... ORPHA:174
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
Eiken Syndrome
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... ORPHA:79106
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly OMIM:601357
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... OMIM:211350
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Brachydactyly, Short ... ORPHA:93333
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Avascular necrosis of the capital femoral epiphysis, Epiphy... OMIM:132400
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Hypoplasia of the radius, Preaxial ... OMIM:147750
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Abnormal ossification inv... ORPHA:750
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Short lower limbs, Micrognathia, Tibial bowing, Lower limb undergrowth OMIM:236640
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi... OMIM:601668
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Weismann-Netter Syndrome
Lateral femoral bowing, Fibular bowing, Anterior tibial bowing, Squared iliac bones OMIM:112350
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Absent radius, Short tibia, Oligodactyly, Micromelia, Humerora... OMIM:251230
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... ORPHA:1505
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Dysplasia of the... ORPHA:94068
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Atelosteogenesis Type I
Micrognathia, Talipes equinovarus, Limb undergrowth, Rhizomelia, Abnormality of fibula morphology... ORPHA:1190
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Microretrognathia, Talipes equinovarus, Fibular hypoplasia, Proximal pl... OMIM:268305
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Decreased fibular diameter, Limb undergrowth, Short ribs, Flared me... OMIM:616897
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Short 4th metacarpal OMIM:619638
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o... ORPHA:85165
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Absent frontal sinuses, Bro... OMIM:311300
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Atelosteogenesis, Type Iii
Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talipes equinovarus, Rhizomelia, Hi... OMIM:108721
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Shoulder flexion contracture, Large hands, Bowed humerus, Long foot, Limb undergrow... OMIM:210710
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... OMIM:617925
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal o... OMIM:600081
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Postaxial polysyndactyly of f... OMIM:263520
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Short ribs OMIM:618188
Osteogenesis Imperfecta, Type Xiv
Femoral bowing OMIM:615066
Czech Dysplasia
Flat capital femoral epiphysis, Short metatarsal, Narrow iliac wing, Coxa vara, Short metacarpal,... OMIM:609162
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... OMIM:300106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Prominent calcaneus, Pes planus, Toe clinodactyly, Short fourth metatars... ORPHA:457395
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Pelvis-Shoulder Dysplasia
Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding c... ORPHA:2839
Anauxetic Dysplasia 3
Short middle phalanx of finger, Genu valgum, Hip subluxation, Short metacarpal, Femoral bowing, B... OMIM:618853
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Absent ossification of capital femoral epiphysis, Tibial bowing OMIM:245160
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Talipes equinovarus, Talipes, Broad distal phalanx of finger, Pes planus, Clinodact... OMIM:300990
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Tibial bowing, Proximal femoral epiphysiolysis, Hypoplastic scapu... OMIM:210720
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal o... OMIM:300554
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Abnormality of the metaphysis, S... ORPHA:3144
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, Metaphyseal irr... OMIM:264700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Short ribs, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral bowin... OMIM:615503
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Proximal femoral epiphysiolysis, Narrow pelvis bone, Short metacarpal, Femoral b... OMIM:616723
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal o... OMIM:241530
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, Metaphyseal irr... OMIM:277440
Campomelic Dysplasia
Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Micrognathia, Hy... OMIM:114290
Campomelic Dysplasia
Micrognathia, Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Bowing of the... ORPHA:140
Occipital Horn Syndrome
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... ORPHA:198
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Polydactyly, Short humerus ORPHA:17
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... OMIM:276820
Van Den Ende-Gupta Syndrome
Hallux valgus, Narrow foot, Talipes equinovarus, Glenoid fossa hypoplasia, Ulnar bowing, Dislocat... OMIM:600920
Bruck Syndrome 2
Femoral bowing, Knee flexion contracture, Talipes equinovarus OMIM:609220
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Dent Disease 1
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal o... OMIM:300009
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Large hands, Long foot, Long fingers, Long toe, Short humerus, Short femur, Hypopla... OMIM:264090
Calvarial Doughnut Lesions With Bone Fragility
Femoral bowing OMIM:126550
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Micrognathia OMIM:617952
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Long fingers, Thin long bone diaphyses, Hip dysplasia, Long toe, Camptodactyl... ORPHA:3455
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Long fingers, Pes valgus, Pes planus, Congenital hip dislocation, Sh... ORPHA:508488
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Short metacarpal, Slender long bone, Externally rotated/abducted le... OMIM:610915
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Talipes equinovarus, Hypoplastic acetabulae, Short fifth metatarsal... OMIM:134780
Acrofacial Dysostosis, Cincinnati Type
Femoral bowing, Micrognathia, Acetabular dysplasia OMIM:616462
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial... OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Familial Osteodysplasia, Anderson Type
Bifid femur, Missing ribs, Aplastic clavicle, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Bifid femur, Large hands, Aplastic clavicle, Abnormality of the metaphysis, Broad d... ORPHA:2636
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Osteopathia stria... OMIM:300373
Kinsship Syndrome
Micrognathia, Polydactyly, Fibular hypoplasia, Pes planus, Dislocated radial head, Hip dislocatio... OMIM:619297
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Absent radius, Down-sloping shoulders,... OMIM:214800

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 Chpf

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 Chpf.

No publications found that use IMPC mice or data for Chpf.

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MGI Allele Allele Type Produced
Chpftm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Chpftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Chpftm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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