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Gene: Thbs3 MGI:98739

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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:
thrombospondin 3
Synonyms:
TSP3,  Thbs-3

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 Thbs3 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 Thbs3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... ORPHA:1078
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormal pelvis bone morphology, Obesity ORPHA:2206
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
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
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Obesity, Tapered finger OMIM:309585
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615983
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly OMIM:300577
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... ORPHA:3210
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Tapered finger, Large hands, Short 5th metacarpal, Joint hypermobility OMIM:102150
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger, Obesity OMIM:300209
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Adenocarcinoma Of The Esophagus
Obesity, Clinodactyly of the 5th toe ORPHA:99976
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly OMIM:615984
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
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
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis ORPHA:88643
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes... ORPHA:65759
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing OMIM:615066
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... ORPHA:2928
Shox-Related Short Stature
Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth, Uln... ORPHA:314795
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615982
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Brachydactyly OMIM:612463
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Obesity, Short foot, ... ORPHA:3409
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:600081
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossificat... OMIM:618395
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Small hand, Obesity, Short foot, Clinodactyly ORPHA:254525
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Obesity, Cone-shaped epiphyses of the 2nd to... ORPHA:397973
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormal ulnar metaphysis morphology, Small hand, Obesity ORPHA:177910
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Bardet-Biedl Syndrome 8
Obesity, Postaxial polydactyly OMIM:615985
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Limited shoulder movem... OMIM:618821
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Obesity OMIM:606772
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... OMIM:609220
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility ORPHA:1035
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:241530
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity ORPHA:141333
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Obesity, Genu valgum, Short palm, Tall stature OMIM:300602
Bardet-Biedl Syndrome 3
Obesity, Postaxial polydactyly, Brachydactyly OMIM:600151
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly OMIM:615633
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... ORPHA:589905
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Obesity, Short foot, Clinodactyly, Joint hypermobility ORPHA:254531
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Cone-shaped e... OMIM:614613
Temple Syndrome
Small for gestational age, Overweight, Flexion contracture, Small hand, Obesity, Short foot, Trun... OMIM:616222
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... ORPHA:15
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature ORPHA:85325
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
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Senior-Loken Syndrome 9
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity OMIM:616629
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Joubert Syndrome 32
Postaxial foot polydactyly, Postaxial hand polydactyly, Tall stature, Large for gestational age OMIM:617757
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Congenital hip dislocation, Increased body weight OMIM:614450
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Osteoporosis, Increased body weight OMIM:615954
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Laurence-Moon Syndrome
Polydactyly, Obesity OMIM:245800
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa... OMIM:201000
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Large for gestational age, Metaphyseal widening, Broad fi... OMIM:239850
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Bardet-Biedl Syndrome 21
Overweight, Postaxial hand polydactyly, Obesity OMIM:617406
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Obesity, Osteoporosis, Subcutaneous ossification, ... OMIM:103580
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Bardet-Biedl Syndrome 6
Syndactyly, Obesity, Postaxial polydactyly OMIM:605231
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth... ORPHA:439822
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Small hand, Obesity, Short foot, Truncal obesity, Clinodactyly, Joint ... ORPHA:96184
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral... OMIM:616723
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Limited elbow exte... OMIM:618019
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Momo Syndrome
Large for gestational age, Obesity, Femoral bowing, Large hands, Short sternum, Overgrowth, Abnor... ORPHA:2563
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... OMIM:100800
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight OMIM:615830
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Brachydactyly OMIM:612462
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... OMIM:166200
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Short foot, Increased body weight, Broad hallux, 2-3 toe syndactyly OMIM:300860
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,... OMIM:600920
Smith-Magenis Syndrome
Brachydactyly, Increased body weight, Short palm OMIM:182290
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Obesity, Genu valgu... ORPHA:91
Perrault Syndrome 4
Disproportionate tall stature, Osteoporosis, Obesity OMIM:615300
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Obesity, Genu va... OMIM:620072
Wilson Disease
Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive ORPHA:905
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Obesity, Osteoporosis, Reduced bone mineral density ORPHA:2235
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Hip dysplasia, Limb undergrowth, Clinodactyly of the 5th fin... ORPHA:319675
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... ORPHA:3138
Sotos Syndrome
Joint laxity, Long metacarpals, Increased body weight, Genu valgum, Long phalanx of finger, Large... OMIM:117550
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... OMIM:619269
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Increased body weight, Large for gestational age ORPHA:263455
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short metatarsal, Obesi... ORPHA:79444
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... OMIM:612731
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Small hand, Increased body weight, Osteoporosis, Short foot, Hip... ORPHA:398069
Narcolepsy 7
Obesity OMIM:614250
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, S... OMIM:304120
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures ORPHA:189427
Insulinoma
Increased body weight ORPHA:97279
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large h... ORPHA:500095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Osteoporosis, Increased body weight ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Increased body weight ORPHA:79240
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreased body we... ORPHA:2298
Cushing Disease
Truncal obesity, Abdominal obesity, Osteoporosis, Increased body weight ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Thbs3

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 Thbs3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Thrombospondin-3 augments injury-induced cardiomyopathy by intracellular integrin inhibition and sarcolemmal instability. Nature communications (January 2019) Thbs3tm1(KOMP)Vlcg PMC6325143

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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
Thbs3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Thbs3tm49083(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Thbs3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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