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Gene: Isg15 MGI:1855694

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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

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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 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, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
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
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Recurrent fractures, Thin bony cortex, Multiple prenatal fractures OMIM:619795
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Pyle Disease
Reduced bone mineral density, Limited elbow extension, Thin bony cortex OMIM:265900
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hypercholanemia, Familial 1
Rickets OMIM:607748
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
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, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Proteus Syndrome
Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... 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
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, A... ORPHA:93160
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... OMIM:241530
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... OMIM:300009
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:277440
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Osteomalacia, Increased susceptibility to fractures, Sp... ORPHA:289157
Melnick-Needles Syndrome
Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Abnormal cortical bon... ORPHA:2484
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Rickets, Osteoarthritis, Osteomalacia OMIM:307800
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
Dent Disease
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... ORPHA:1652
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Arthritis, Osteop... ORPHA:2796
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
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures ORPHA:2769
Osteogenesis Imperfecta, Type X
Osteopenia, Joint hypermobility, Decreased calvarial ossification, Generalized joint hypermobilit... OMIM:613848
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,... ORPHA:562
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Thin bony cortex OMIM:230600
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... ORPHA:89936
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... ORPHA:2671
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Oculodentodigital Dysplasia
Abnormal cortical bone morphology, Hyperostosis, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Distal Renal Tubular Acidosis
Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:18
Spondyloocular Syndrome
Osteopenia, Femur fracture, Thin bony cortex OMIM:605822
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Weill-Marchesani Syndrome 1
Joint stiffness, Thin bony cortex OMIM:277600
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Abnormal cortical bone morphology, Increased susceptibil... ORPHA:666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Reduced bone mineral density OMIM:613658
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... ORPHA:198
Frank-Ter Haar Syndrome
Cortical irregularity, Osteopenia, Camptodactyly, Osteoporosis OMIM:249420
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia ORPHA:3337
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Joint stiffness, Thin bony cortex, Flexion contracture of toe OMIM:608328
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... OMIM:309000
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae ORPHA:2636
Wilson Disease
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia OMIM:277900
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Arthritis ORPHA:93
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Joint stiffness, Joint hypermobility, Arthritis, Recurrent fractures ORPHA:534
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Arthritis, Osteomalacia OMIM:619381
Hypomagnesemia 3, Renal
Rickets OMIM:248250
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... 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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