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Gene: Chpf MGI:106576

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Gene Summary

Name:
chondroitin polymerizing factor
Synonyms:
D1Bwg1363e,  1700028N03Rik

Order Alleles

IMPC Data Collections

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 retina morphology Chpftm1b(EUCOMM)Hmgu HOM Early adult 4.47×10-17
short tibia Chpftm1b(EUCOMM)Hmgu HOM Early adult 1.59×10-08
decreased total retina thickness Chpftm1b(EUCOMM)Hmgu HOM Early adult 8.09×10-34
abnormal femur morphology Chpftm1b(EUCOMM)Hmgu HOM Early adult 9.53×10-05

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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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Tibial Hemimelia
Absent tibia OMIM:275220
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... OMIM:184255
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ... OMIM:226900
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Lattice retinal degeneration, Brachyd... OMIM:619248
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro... ORPHA:2632
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Orofaciodigital Syndrome Ix
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, U... ORPHA:56304
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Foot oligodactyly OMIM:601357
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis, Mesomelic leg shortening, ... ORPHA:93333
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Pseudoachondroplasia
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Metaphysea... ORPHA:750
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Type E brachydactyly, Irregular epiphyses, Delayed pubic bone ossificatio... ORPHA:1856
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Enlarged epiphyses of the phalanges of th... OMIM:609616
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho... ORPHA:2639
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Short ribs, Short humerus, ... OMIM:607143
Achondroplasia
Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Short ... OMIM:100800
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Short long bone, Micrognathia, Limb undergrowth, Brachyda... ORPHA:1190
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Genu valgum, Small epiphyses, Upper limb undergrowth, Short long bone, ... ORPHA:94068
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Short ribs, Decreased fibular diameter, Micrognathia, Limb undergrowth, Fractu... OMIM:616897
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... ORPHA:356961
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Hypopl... OMIM:608728
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... OMIM:608940
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Micromelia, Mic... OMIM:613848
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Finger clinodactyly, Cone-shaped epiphyses of the pha... ORPHA:2751
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Short femur, Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion,... OMIM:620494
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... OMIM:263520
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Retinal detachment, Splayed epiphyses, Delayed epiphyseal ossifica... OMIM:156550
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal OMIM:619638
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Short lower limbs, Bowing of the legs OMIM:219250
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Short ribs, Short long bone, Metaphyseal spurs, Fractured rib, Short femur OMIM:618188
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, 11 pairs of ribs, Hypoplastic acetabulae, Short fifth metatarsal... OMIM:134780
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ... OMIM:616145
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Short metacarpal, Coxa vara,... OMIM:609162
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Mesomelic l... OMIM:603671
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno... OMIM:307800
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short 4th metacarpal, Genu valgum, Rhizomelia, Knee flexion contracture, Bowed humerus, Metaphyse... OMIM:618019
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Talipes, Clinodactyly of the 5th finger, Short femur, Micrognathi... OMIM:300990
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Short humerus ORPHA:17
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Hypophosphatemic Rickets, X-Linked Recessive
Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Tibial bowing, Femora... OMIM:300554
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Clinodactyly of the 5th finger, Short hallux, Short 5th finger, Shor... ORPHA:508488
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Postaxial po... OMIM:615503
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Wiedemann-Rautenstrauch Syndrome
Long foot, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Long fingers, L... OMIM:264090
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Hypoplastic ilia, Short femur, Thin long bone diaphyses, Camptodactyly of fin... ORPHA:3455
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Retinal dystrophy, Broad toe, Triphal... OMIM:218330
Aprosencephaly And Cerebellar Dysgenesis
Talipes equinovarus, Micrognathia, Retinal dysplasia OMIM:601374
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Missing ribs, Bifid femur, Aplas... ORPHA:2769
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Retinal coloboma, Bilateral talipes equin... OMIM:214800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ... ORPHA:2636
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes planus, Cox... OMIM:619297
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373

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.

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
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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