Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
reversion-inducing-cysteine-rich protein with kazal motifs
Synonyms:
St15

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Reck 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 Reck by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Sc phocomelia syndrome
Aplasia of the ulna, Radial deviation of finger, Clinodactyly, Absent radius, Short thumb, Phocom... OMIM:269000
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
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
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... OMIM:227270
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Short sternum, Aplasia of the ulna, Short metacarpal, ... OMIM:266910
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Ulnar-Mammary Syndrome
Hypoplasia of the radius, Postaxial hand polydactyly, Hypoplastic scapulae, Aplasia of the ulna, ... OMIM:181450
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
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
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the... ORPHA:971
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Forearm undergrowth, Absent radius, Bowed forearm bones OMIM:602200
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Absent radius, Hand polydactyly, Short humerus OMIM:314390
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Hypoplasia of the ul... ORPHA:2557
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Absent rad... ORPHA:1352
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypopla... OMIM:304950
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Elbow dislocation, Club-shaped distal... ORPHA:56305
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Absent rad... OMIM:600123
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Auriculoosteodysplasia
Hip dysplasia, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal... ORPHA:114
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Acrofacial Dysostosis 1, Nager Type
Triphalangeal thumb, Limited elbow extension, Hypoplasia of the radius, Toe syndactyly, Radioulna... OMIM:154400
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Micromelia, Madel... ORPHA:321
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Hypoplasia of the ulna ORPHA:357175
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Preaxial polydacty... OMIM:607323
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Micrognathia, Shoulder ... OMIM:274000
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Mental Retardation, Autosomal Recessive 35
Clinodactyly, Micrognathia, Hypoplasia of the ulna OMIM:615162
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... OMIM:605432
Pallister W Syndrome
Radial bowing, Cubitus valgus, Camptodactyly, Hypoplasia of the ulna, Radial deviation of finger,... OMIM:311450
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Elbow ... OMIM:108720
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Hypoplasia of the ulna, Clinodac... ORPHA:2804
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Mic... ORPHA:246
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aplasia of the 1st metacarpal, Micrognathia, 2-3 toe syndactyly, Partial absence of thumb, Unilat... ORPHA:476126
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Camptodactyly of toe, Ulnar bowing, Slender long... OMIM:600920
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Hypoplastic pelvis, Prominent palmar flexion creases, Rhizomelia, Hypop... OMIM:602613
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Micrognathia, Short 1st ... OMIM:619135
3M Syndrome
Rocker bottom foot, Scapular winging, Congenital hip dislocation, Hypoplastic pelvis, Abnormality... ORPHA:2616
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia ORPHA:1765
Duane Retraction Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Preaxial hand polydactyly, Camptodactyly, Absent r... ORPHA:233
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Baller-Gerold Syndrome
Hypoplasia of the radius, Ulnar bowing, Aphalangy of the hands, Short humerus, Hypoplasia of the ... OMIM:218600
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Cat Eye Syndrome
Micrognathia, Absent radius OMIM:115470
Fanconi Anemia, Complementation Group E
Absent thumb, Complete duplication of thumb phalanx, Absent radius, Short thumb OMIM:600901
Sirenomelia
Absence of the sacrum, Sirenomelia, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:3169
Bartsocas-Papas Syndrome 1
Oligodactyly, Talipes equinovarus, Short phalanx of finger, Ulnar bowing, Hypoplastic scapulae, H... OMIM:263650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Fanconi Anemia, Complementation Group A
Absent thumb, Complete duplication of thumb phalanx, Absent radius, Short thumb OMIM:227650
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Hypoplasia of the ul... OMIM:263750
Ulnar-Mammary Syndrome
Absent hand, Camptodactyly of finger, Postaxial hand polydactyly, Abnormality of finger, Abnormal... ORPHA:3138
Distal Trisomy 5Q
Hypoplasia of the radius, Hypoplasia of the ulna, Absent thumb, Micrognathia, Brachydactyly ORPHA:96097
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... OMIM:210720
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia OMIM:300514
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... OMIM:304120
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Partial duplication of thumb phalanx, A... OMIM:227646
Fanconi Anemia, Complementation Group C
Absent thumb, Complete duplication of thumb phalanx, Absent radius, Short thumb OMIM:227645
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arterios... ORPHA:90308
Steinfeld Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Phocomelia, Mi... OMIM:184705
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Elbow dislocation, Bilateral single transverse palmar creases, Short dis... OMIM:143095
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, 2-3 finger syndactyly, Hypoplasia of the radius, Absent proximal phalanx o... OMIM:149730
Vater/Vacterl Association
Hypoplasia of the radius, Spina bifida, Radioulnar synostosis, Preaxial polydactyly, Absent radiu... OMIM:192350
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Abnormal umbilical stump ... ORPHA:335
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Foot polydactyly, Aplasia/Hypoplasia of the thu... ORPHA:3186
Robin Sequence With Cleft Mandible And Limb Anomalies
Radial deviation of the hand, Hypoplasia of the radius, Hip subluxation, Short phalanx of finger,... OMIM:268305
Alagille Syndrome
Micrognathia, Hypoplasia of the ulna, Short distal phalanx of finger, Spina bifida occulta, Clino... ORPHA:52
Marshall Syndrome
Radial bowing, Absent frontal sinuses, Micrognathia, Wide tufts of distal phalanges, Hypoplastic ... OMIM:154780
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Hypoplasia of the ulna, Hand oligodactyly, Phocomelia, Absent thumb OMIM:156810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna OMIM:615398
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Camptodactyly, Ulnar bowing, Femoral bowing, Arachno... OMIM:207410
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Palmar hyperkeratosis, Aplasia/Hypoplas... ORPHA:2909
Fanconi Anemia
Triphalangeal thumb, Aplasia/Hypoplasia of fingers, Spina bifida, Abnormality of femur morphology... ORPHA:84
Charge Syndrome
Abnormal palmar dermatoglyphics, Hand polydactyly, Down-sloping shoulders, Hypoplasia of the ulna... OMIM:214800
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Mesomelia, Sho... ORPHA:3404
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Hepatocellular Carcinoma
Hypotension, Portal hypertension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Internal hemorrhage, Renovascular hypertension, Umbilical hernia, Telangiectas... ORPHA:286

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 Reck

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 Reck.

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

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MGI Allele Allele Type Produced
Recktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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