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
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Sc phocomelia syndrome
Aplasia of the ulna, Micrognathia, Short thumb, Phocomelia, Clinodactyly, Radial deviation of fin... OMIM:269000
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... ORPHA:2491
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement OMIM:276821
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... OMIM:602418
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Elbow flexion contracture, Absent proximal radial ep... OMIM:249600
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... OMIM:171480
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... ORPHA:1972
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Aplasia of the ulna, Short clavicles, Aplasia of the 3rd finger, H... OMIM:181450
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... ORPHA:2249
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... ORPHA:1350
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... OMIM:276820
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... OMIM:227270
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... OMIM:266910
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Arrhin... ORPHA:1788
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb OMIM:602200
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... ORPHA:75508
Radial-Renal Syndrome
Absent radius, Absent thumb OMIM:179280
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... ORPHA:1837
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent ra... OMIM:617247
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... OMIM:608571
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Aplas... ORPHA:916
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micrognathia, Mic... OMIM:251230
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly OMIM:228940
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... OMIM:186500
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... OMIM:614900
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Auriculoosteodysplasia
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d... ORPHA:114
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... ORPHA:1352
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb OMIM:179270
Mietens Syndrome
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... ORPHA:2557
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... OMIM:274000
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Distal tapering femur, Absent radius, Short tibia, Abnormali... ORPHA:56305
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... OMIM:600123
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Acrofacial Dysostosis 1, Nager Type
Hypoplasia of first ribs, Overlapping toe, Short toe, Talipes equinovarus, Absent thumb, Hypoplas... OMIM:154400
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminence, Short humer... OMIM:607323
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... OMIM:304950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Short femoral neck, Tapered finger, Carpal bone... OMIM:618395
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Cubitus valgus, Short foot, Madelu... ORPHA:314795
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... ORPHA:950
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Clinodactyly ORPHA:357175
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Clinodactyly OMIM:615162
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... ORPHA:3138
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ulna, Finger s... ORPHA:246
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella ORPHA:1149
Pallister W Syndrome
Radial bowing, Joint contracture of the hand, Camptodactyly, Hypoplasia of the ulna, Cubitus valg... OMIM:311450
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality of the hand, Micrognathia, Tapere... ORPHA:476126
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
W Syndrome
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Cubitus valgus, Clinodactyly, Metatarsus ad... ORPHA:2804
Sheldon-Hall Syndrome
Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overlapping fingers, Bilateral single... ORPHA:1147
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... ORPHA:2319
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Acromesomelic Dysplasia 1
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... OMIM:602875
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Hypoplasia of the radius,... OMIM:602613
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Holt-Oram Syndrome
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... ORPHA:392
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Micrognathia, Hypoplasia... OMIM:619135
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Duane Retraction Syndrome
Talipes equinovarus, Hypoplasia of the radius, Absent radius, Micrognathia, Brachydactyly, Spina ... ORPHA:233
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Short humerus, Li... OMIM:218600
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
3M Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Micromelia, Hypoplastic pubic bone, S... ORPHA:2616
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing ORPHA:1765
Van Den Ende-Gupta Syndrome
Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Long hallux, Talipes ... OMIM:600920
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia ORPHA:3169
Fanconi Anemia, Complementation Group E
Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb OMIM:600901
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abn... ORPHA:1307
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Absent thumb, Micrognathia, Syndactyly, Short phalanx of finger, Short thumb... OMIM:263650
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Fanconi Anemia, Complementation Group A
Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb OMIM:227650
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb OMIM:300514
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Micrognathia, Congenital hip dislocation, Syndactyly, Radioulnar synost... OMIM:263750
Fanconi Anemia, Complementation Group C
Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb OMIM:227645
Fanconi Anemia, Complementation Group D2
Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb, Complete duplicat... OMIM:227646
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Duplication of the distal phalanx of hand, Umbilica... OMIM:268310
Distal Trisomy 5Q
Absent thumb, Hypoplasia of the radius, Micrognathia, Brachydactyly, Hypoplasia of the ulna ORPHA:96097
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Acrorenal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Hand polydactyly, Micrognathia, Rudimentary fibula, Rudimen... OMIM:200980
Fanconi Anemia, Complementation Group L
Absent thumb, Hypoplastic sacrum, Bilateral talipes equinovarus, Micrognathia, Absent radius OMIM:614083
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Radioulnar synos... ORPHA:2307
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Short thumb, Radioulnar synostosis, T... OMIM:192350
Klippel-Trénaunay Syndrome
Pulmonary embolism, Prolonged bleeding time, Patent ductus arteriosus, Internal hemorrhage, Gastr... ORPHA:90308
Lacrimoauriculodentodigital Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... OMIM:149730
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Sma... OMIM:143095
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... ORPHA:3404
Cat Eye Syndrome
Micrognathia, Absent radius, Umbilical hernia OMIM:115470
Steinfeld Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Missing ribs, Aplasia/Hypoplasia of... OMIM:184705
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Genu... ORPHA:321
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Moebius Syndrome
Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... ORPHA:570
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Arrhinencephaly, Hypoplasia of the uln... OMIM:156810
2Q31.1 Microdeletion Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Micrognathia, Broad ha... ORPHA:251014
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Phocomelia, Missing... ORPHA:3186
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Spina bifida occult... ORPHA:52
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna OMIM:615398
Holzgreve Syndrome
Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2167
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Poland Syndrome
Absent hand, Short ribs, Abnormal morphology of ulna, Hand polydactyly, Aplasia of the pectoralis... ORPHA:2911
Rothmund-Thomson Syndrome
Palmar hyperkeratosis, Broad ulna, Aplasia/Hypoplasia of the patella, Metaphyseal striations, Hyp... ORPHA:2909
Fanconi Anemia
Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, A... ORPHA:84
Charge Syndrome
Absent tibia, Abnormal palmar dermatoglyphics, Bilateral talipes equinovarus, Absent radius, Micr... OMIM:214800
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... ORPHA:906
Camurati-Engelmann Disease
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... ORPHA:1328
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... ORPHA:340
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Hellp Syndrome
Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension ORPHA:244242
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... ORPHA:99829
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage ORPHA:247245
Hepatocellular Carcinoma
Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension ORPHA:88673
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Bruising susceptibility, Abnormal bleeding, Renovascular hypertension... 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
Recktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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