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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, Obesity, Abnormal thumb morphology, Abnormal metacarpal mo... ORPHA:1078
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Pseudopseudohypoparathyroidism
Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ... ORPHA:79445
Bardet-Biedl Syndrome 14
Obesity, Polydactyly OMIM:615991
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity, Genu valgum ORPHA:436141
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Osteoarthritis ORPHA:2206
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Trun... OMIM:620639
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Short foot, Tapered finger OMIM:309585
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Short foot 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, Tall stature, Obesity, Genu valgum, Clinodactyly of t... ORPHA:3210
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Large for gestational age, Joint hypermobility, Large hands, Tapered finger OMIM:102150
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Obesity ORPHA:99976
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Broad thumb, Short 3rd metacar... ORPHA:370010
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Obesity, Broad thumb, Short finger OMIM:300209
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Obesity, Syndactyly, Tapered finger OMIM:618725
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Bardet-Biedl Syndrome 7
Clinodactyly, Obesity, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Microduplication Xp11.22P11.23 Syndrome
Obesity, Toe syndactyly ORPHA:217377
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Bardet-Biedl Syndrome 22
Obesity, Postaxial foot polydactyly, Large for gestational age, Polydactyly OMIM:617119
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Shox-Related Short Stature
Obesity, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, Short... ORPHA:314795
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Joint hyper... OMIM:250420
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Pseudopseudohypoparathyroidism
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612463
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F... OMIM:600081
Nephronophthisis 15
Obesity, Polydactyly OMIM:614845
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Genu valgum, Small epiphyses, Hip contracture, Joint hypermobility, Truncal obesity, Fla... OMIM:618363
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Clinodactyly, Obesity, Short foot, Acromicria ORPHA:254525
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Obesity, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Obesity OMIM:615985
Pseudohypoparathyroidism, Type Ib
Obesity, Short metacarpal, Brachydactyly OMIM:603233
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Prominent fingertip pads, Short thumb, Obesity, Limited shoulder mo... OMIM:618821
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Short foot, Abnormal ulnar metaphysis morphology, Small hand ORPHA:177910
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of the toes, ... ORPHA:397973
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... OMIM:609220
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Obesity, Polydactyly, Postaxial polydactyly, Brachydactyly, Truncal o... OMIM:615986
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly ORPHA:1035
Bardet-Biedl Syndrome 2
Obesity, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615981
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Hypophosphatemic ... OMIM:241530
Biemond Syndrome Type 2
Obesity, Preaxial polydactyly ORPHA:141333
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Obesity, Cone-shaped epiphysis OMIM:606772
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Obesity, Brachydactyly OMIM:600151
Clark-Baraitser syndrome
Tall stature, Obesity, Genu valgum, Joint hypermobility, Short palm, Tapered finger OMIM:300602
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures OMIM:126550
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Obesity, Brachydactyly, Short long bone OMIM:615633
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Obesity, Brachydactyly, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint hypermobility, Increased body weight, 2-3 toe syndactyly, Clinodactyly of the 5... ORPHA:589905
Achondroplasia
Hip joint hypermobility, Rhizomelia, Obesity, Limited elbow extension, Trident hand, Knee joint h... ORPHA:15
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Joint hypermobility, Short foot ORPHA:254531
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Temple Syndrome
Small hand, Clinodactyly, Obesity, Joint hypermobility, Truncal obesity, Short foot, Flexion cont... OMIM:616222
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity, Genu valgum, Large hands, Tapered finger ORPHA:85325
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic symphysis, Joint ... OMIM:614856
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:264700
Senior-Loken Syndrome 9
Polydactyly, Osteopenia, Obesity, Hypoplasia of the femoral head OMIM:616629
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Epiphyseal stippling, Small for gestational age OMIM:274300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:277440
Joubert Syndrome 32
Tall stature, Large for gestational age, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... OMIM:602080
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Congenital hip dislocation, Increased body mass index OMIM:614450
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Osteoporosis, Abdominal obesity OMIM:615954
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Laurence-Moon Syndrome
Obesity, Polydactyly OMIM:245800
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Large for gestational age, Broad first me... OMIM:239850
Bardet-Biedl Syndrome 21
Obesity, Overweight, Postaxial hand polydactyly OMIM:617406
Osteogenesis Imperfecta, Type Viii
Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ... OMIM:610915
Pseudohypoparathyroidism, Type Ia
Short toe, Short finger, Obesity, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short m... OMIM:103580
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... OMIM:211350
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Obesity, Syndactyly 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
Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f... ORPHA:439822
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... OMIM:618019
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Clinodactyly, Obesity, Joint hypermobility, Truncal obesity, Short foot, Small for ge... ORPHA:96184
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Femoral bowing, Overgrowth, Short sternum, Abno... ORPHA:2563
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Polydactyly, Brachydactyly, Post... OMIM:615994
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia, Increased body weight OMIM:615830
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing... OMIM:608940
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Pseudohypoparathyroidism, Type Ic
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612462
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,... OMIM:615503
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Short foot, Broad hallux, 2-3 toe syndactyly OMIM:300860
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... OMIM:166200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing ORPHA:85165
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Tall stature, Obesity, Genu valgum, Eunuchoid habitu... ORPHA:91
Smith-Magenis Syndrome
Increased body weight, Brachydactyly, Short palm OMIM:182290
Perrault Syndrome 4
Osteoporosis, Obesity, Disproportionate tall stature OMIM:615300
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu valgum, Hallux valgus, Brachydact... OMIM:620072
Wilson Disease
Failure to thrive, Pathologic fracture, Increased body weight, Weight loss, Arthritis ORPHA:905
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Obesity, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of... ORPHA:319675
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Clinodactyly of the 5th finger, Short phalanx of finger, Cone-sha... OMIM:619269
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Obesity, Absent hand, Postaxial hand pol... ORPHA:3138
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly OMIM:615989
Sotos Syndrome
Long metacarpals, Tall stature, Genu valgum, Joint hypermobility, Increased body weight, Overgrow... OMIM:117550
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Joint contracture of the 5th finger OMIM:619562
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol... OMIM:181450
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Hypophosphatemic rickets ORPHA:263455
Retinitis Pigmentosa 74
Obesity, Polydactyly OMIM:616562
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b... OMIM:612731
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Failure to thrive, Increased body weight, Abdominal obesity, Osteoporosis... ORPHA:398069
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Insulinoma
Increased body weight ORPHA:97279
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Osteoporosis, Increased susceptibility to fractures, Abdominal obesity ORPHA:189427
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Tibial torsion, Long hallux, Large for gestational age, Abnormal thumb ... ORPHA:500095
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand pol... OMIM:619471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Osteoporosis, Failure to thrive ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Osteoporosis ORPHA:79240
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss, Osteoarthr... ORPHA:2298
Cushing Disease
Increased body weight, Osteoporosis, Truncal obesity, Abdominal obesity ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Osteoporosis ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Abdominal obesity 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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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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