Gene: Tbl1xr1 MGI:2441730

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Gene Summary

Name:
transducin (beta)-like 1X-linked receptor 1
Synonyms:
Ira1,  TBLR1,  DC42,  C21,  C230089I12Rik,  A630076E03Rik,  8030499H02Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged cecum Tbl1xr1tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, incomplete penetrance Tbl1xr1tm1b(EUCOMM)Hmgu HOM   Early adult 0.0167
short tibia Tbl1xr1tm1b(EUCOMM)Hmgu HET Early adult 3.81×10-05
absent vibrissae Tbl1xr1tm1b(EUCOMM)Hmgu HET Early adult 4.51×10-08
increased blood urea nitrogen level Tbl1xr1tm1b(EUCOMM)Hmgu HET Early adult 3.75×10-05
increased heart weight Tbl1xr1tm1b(EUCOMM)Hmgu HET Early adult 1.52×10-05

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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 Tbl1xr1 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 Tbl1xr1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pierpont Syndrome
Short toe, Deep plantar creases, High anterior hairline, Short finger, Short foot, Prominent fing... OMIM:602342
Pierpont Syndrome
Pes planus, High anterior hairline, Short finger, Abnormality of the plantar skin of foot, Short ... ORPHA:487825
Acute Promyelocytic Leukemia
ORPHA:520
Mental Retardation, Autosomal Dominant 41
OMIM:616944

The table below shows human diseases predicted to be associated to Tbl1xr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia OMIM:300484
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Ethanolaminosis
Cardiomegaly OMIM:227150
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Talipes equinovarus, Overlapping toe, Fibular hypoplasia, Clin... OMIM:201170
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Azotemia, Familial
Azotemia OMIM:109160
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Gastrointestinal atresia, Abnormality of long bone morphology, Polydac... ORPHA:1505
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Palmoplantar keratoderma, Dysphagia, Gastroesophageal reflux, Esopha... ORPHA:2198
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Femoral bowing, ... OMIM:613091
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly, Colitis ORPHA:88643
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, A... OMIM:236640
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Abnormal heart mor... ORPHA:356961
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Cleft palate, Talipes ... OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies
Talipes equinovarus, Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microret... OMIM:268305
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Cleft palate, High palate, Short tibia OMIM:258865
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, High palate, Mic... ORPHA:1106
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Pericardial effusion, Elevated circulating C-reactiv... ORPHA:231111
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Tongue nodules, Broad first metatarsal, Hamartoma of tongue, Cone-shaped ep... ORPHA:2751
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Complete atrioventricular canal defect, Preaxial polydactyly, Hamartoma of tongue, ... OMIM:617925
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Microglossia, Shor... OMIM:227270
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyly, Pate... OMIM:119800
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Coxa valga, Clinodactyly of the ... ORPHA:3320
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly, Preaxial hand... OMIM:263520
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Tibial Hemimelia
Absent tibia OMIM:275220
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Lower limb underg... ORPHA:3035
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Omodysplasia 1
Hypoplastic distal humeri, Atrial septal defect, Ventricular septal defect, Limited knee extensio... OMIM:258315
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Syndactyly, Cardiomegaly, Palmoplantar keratoderma OMIM:613576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Cantu Syndrome
Short hallux, Metaphyseal widening, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiop... OMIM:239850
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Fibular ... OMIM:165590
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney ORPHA:251004
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Occipital Horn Syndrome
Large iliac wing, Pes planus, Coarse hair, Abnormality of fibula morphology, High, narrow palate,... ORPHA:198
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Gastroesophageal reflux, Increased blood urea nitr... OMIM:223900
Acro-Renal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly, Ventricular septal defect, Syndactyly, Cardiomegaly, Patent f... OMIM:601005
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Cockayne Syndrome Type 1
Hepatomegaly, Contractures involving the joints of the feet, Increased blood urea nitrogen ORPHA:90321
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Pes... OMIM:300257
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Hypertrichotic Osteochondrodysplasia, Cantu Type
Generalized hirsutism, Low anterior hairline, Short hallux, Finger syndactyly, Abnormal heart val... ORPHA:1517
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Gastroesophageal reflux, Hepatomegaly, Necrotizing enterocolitis, Car... OMIM:201475
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, T... OMIM:255120
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Abnormal heart morphology, Hypoplastic scapu... OMIM:114290
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sandal gap, Abnormal pelvi... OMIM:215140
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Pedal edema, Elevated circulating C-reactive prote... ORPHA:49041
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Short metacarpa... OMIM:211350
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Absent eyelashes, Camptodactyly of toe, Absent eyeb... ORPHA:158687
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Narrow palate, Absent nipple, Hand polydactyly, Toe... OMIM:200980
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal... OMIM:236680
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Talipes, Hypoplasia o... OMIM:210600
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Talipes equinovarus, Narrow palate, Ventricular septal defect, Adducted thum... OMIM:617022
Cranioectodermal Dysplasia 1
Hypocalcemia, Slow-growing hair, Short distal phalanx of finger, High palate, High, narrow palate... OMIM:218330
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Abn... ORPHA:90652
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Phocomelia, High palate, Femoral bowing, Hypopla... OMIM:276820
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Median cleft palate, Patellar hypopla... ORPHA:1827
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Osteopathia Striata With Cranial Sclerosis
Talipes equinovarus, Fibular aplasia, Atrial septal defect, Anal stenosis, Ventricular septal def... OMIM:300373
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Perineal fistula,... ORPHA:2753
Yunis-Varon Syndrome
Sparse eyebrow, Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegaly, High... ORPHA:3472
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pes cavus, Cardiomegaly, Mitral stenosis, Splenomegaly,... OMIM:231005
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Synop... OMIM:211910
Renal Dysplasia-Limb Defects Syndrome
Talipes equinovarus, Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the uln... OMIM:266910
Singleton-Merten Syndrome 1
Genu valgum, Talipes equinovarus, Hip subluxation, Expanded metacarpals with widened medullary ca... OMIM:182250
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Macroglossia, Hip subluxation, Abnormal heart morphology, Ventricular sept... ORPHA:444077
Kinsship Syndrome
Ankyloglossia, Dislocated radial head, Polydactyly, Pes planus, Gastroesophageal reflux, Mesomeli... OMIM:619297
Pierpont Syndrome
Short toe, Deep plantar creases, High anterior hairline, Short finger, Short foot, Prominent fing... OMIM:602342
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Ulbright-Hodes Syndrome
Talipes equinovarus, Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short st... ORPHA:3404
Pierpont Syndrome
Pes planus, High anterior hairline, Short finger, Abnormality of the plantar skin of foot, Short ... ORPHA:487825
Mental Retardation, Autosomal Dominant 41
OMIM:616944
Acute Promyelocytic Leukemia
ORPHA:520

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 Tbl1xr1

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 Tbl1xr1.

No publications found that use IMPC mice or data for Tbl1xr1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tbl1xr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tbl1xr1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice

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