Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ISG15 ubiquitin-like modifier
Synonyms:
G1p2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Isg15 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.

The table below shows human diseases associated to Isg15 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 38 With Basal Ganglia Calcification
OMIM:616126

The table below shows human diseases predicted to be associated to Isg15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Hypercholanemia, Familial 1
Rickets OMIM:607748
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Rickets, Osteomalacia OMIM:613388
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... ORPHA:2484
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... ORPHA:2796
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Cystinosis
Rickets ORPHA:213
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... OMIM:613848
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Joint stiffness OMIM:230600
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... ORPHA:89936
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density ORPHA:18
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness OMIM:277600
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... ORPHA:666
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... ORPHA:198
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
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
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness OMIM:608328
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility OMIM:277900
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... OMIM:309000
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Joint hyperflexibility, Arthritis ORPHA:534
Aspartylglucosaminuria
Arthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:93
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia OMIM:619381
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... ORPHA:51608
Immunodeficiency 38 With Basal Ganglia Calcification
OMIM:616126

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 Isg15

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 Isg15.

No publications found that use IMPC mice or data for Isg15.

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