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Gene: Cst5 MGI:1930004

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cystatin D

Synonyms:

Cst10, DD72

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 Cst5 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.

Human diseases associated with Cst5 (3 diseases)
Human diseases predicted to be associated with Cst5 (177 diseases)

The table below shows human diseases associated to Cst5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cerebral Amyloid Angiopathy, Cst3-Related			OMIM:105150
Macular Degeneration, Age-Related, 11			OMIM:611953
Acys Amyloidosis			ORPHA:100008

The table below shows human diseases predicted to be associated to Cst5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
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	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
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
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
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
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe...	OMIM:608940
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b...	ORPHA:93160
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co...	OMIM:619638
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Grant Syndrome	Down-sloping shoulders, Tibial bowing	OMIM:138930
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Short femoral neck, Rudimentary ...	OMIM:249700
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ...	ORPHA:1901
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
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal fibula morpholog...	ORPHA:3035
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati...	OMIM:156550
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Shox-Related Short Stature	Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth, Ulnar radial...	ORPHA:314795
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh...	OMIM:300106
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi...	ORPHA:249
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Anauxetic Dysplasia 3	Short metacarpal, Joint hypermobility, Hip subluxation, Wide anterior fontanel, Squared iliac bon...	OMIM:618853
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Micromel...	ORPHA:2176
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral...	OMIM:616723
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Tombstone-shaped proximal phalanges, Widened distal phalan...	OMIM:108721
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c...	OMIM:620076
Tibial Hemimelia	Absent tibia	OMIM:275220
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing	ORPHA:85165
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Limited elbow exte...	OMIM:618019
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, Bowing of the legs,...	OMIM:100800
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali...	OMIM:613848
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat...	ORPHA:93315
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Stuve-Wiedemann Syndrome 1	Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Cl...	OMIM:601559
Atelosteogenesis, Type I	Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Short femur, Brachyda...	OMIM:108720
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Brachydactyly, Abnormally ossified vertebrae, Abnormal distal phalanx morphology of f...	ORPHA:2636
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,...	OMIM:600920
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol...	ORPHA:562
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Large hands, Ar...	ORPHA:2671
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of...	OMIM:143095
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b...	ORPHA:221016
Cystinosis	Rickets	ORPHA:213
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, S...	OMIM:304120
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella...	ORPHA:221008
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ...	OMIM:309350
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets	OMIM:212750
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Hip dislocation, Rickets, Genu valgum, Finger swelling, Pa...	OMIM:309000
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density	ORPHA:18
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Genu valgum, Joint hyperflex...	ORPHA:534
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Cystinosis, Nephropathic	Hypophosphatemic rickets, Metaphyseal widening, Rickets, Genu valgum	OMIM:219800
Wilson Disease	Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility	OMIM:277900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex	OMIM:613658
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Generalized Arterial Calcification Of Infancy	Osteomalacia, Stippled calcification of the shoulder, Abnormal calcification of the carpal bones,...	ORPHA:51608
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia	OMIM:619381
Cerebral Amyloid Angiopathy, Cst3-Related		OMIM:105150
Acys Amyloidosis		ORPHA:100008
Macular Degeneration, Age-Related, 11		OMIM:611953

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 Cst5

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 Cst5.

No publications found that use IMPC mice or data for Cst5.

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
Cst5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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