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Gene: Rpl10a MGI:1343877

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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:
ribosomal protein L10A
Synonyms:
CsA-19,  Nedd6

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 Rpl10a 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 Rpl10a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly OMIM:614416
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Legg-Calvé-Perthes Disease
Cartilage destruction, Delayed skeletal maturation, Avascular necrosis, Joint dislocation ORPHA:2380
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... ORPHA:66637
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... ORPHA:3104
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... ORPHA:2756
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Short neck, Craniosynostosis, Humeroradial synostosis, M... OMIM:251230
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... ORPHA:2347
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Wide anterior fontanel, Fibul... OMIM:201170
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb... OMIM:256050
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short long bone, Vertebral segmentation defect... OMIM:618845
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Atelosteogenesis, Type I
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Ve... OMIM:108720
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... OMIM:312150
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... ORPHA:1040
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... ORPHA:1307
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... ORPHA:2332
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... OMIM:253290
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th... ORPHA:521308
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Single transverse palmar crease, Sho... ORPHA:915
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Scoliosis, Thoracic h... ORPHA:1445
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... ORPHA:296
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... OMIM:178110
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Short neck, Hip dislocation, Hemivertebrae, Short... OMIM:615583
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Palmar pits, Cryptorchidism, Hemivertebrae, Vertebral wedging, ... ORPHA:377
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r... OMIM:173800
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... ORPHA:93307
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Ciliary Dyskinesia, Primary, 50
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms OMIM:620356
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Achondrogenesis, Type Ib
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth, Short ribs, Abs... OMIM:600972
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Polyhydramnios, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbe... OMIM:151210
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology OMIM:612518
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... OMIM:606612
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... ORPHA:1837
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr... OMIM:265000
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms OMIM:613807
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia OMIM:617091
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short... ORPHA:90652
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... ORPHA:1416
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Ciliary Dyskinesia, Primary, 17
Dynein arm defect of respiratory motile cilia OMIM:614679
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Irregular os... OMIM:109400
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia OMIM:615505
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Absent inner dynein arms OMIM:613193
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes OMIM:616481
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi... OMIM:206920
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... OMIM:108721
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly, Oligohydramnios ORPHA:3016
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... ORPHA:2522
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Cryptorchidism, Delaye... OMIM:148050
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Square... OMIM:618000
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... ORPHA:3027
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Umbilical hernia, Short foot, Oligodactyly OMIM:619758
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... OMIM:245650
Achondroplasia
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... OMIM:100800
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... OMIM:602418
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... ORPHA:2879
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna OMIM:276822
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... OMIM:607155
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Broad long bones, Edema, Short tubular bones of the hand, P... OMIM:200610
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms OMIM:614874
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... ORPHA:1788
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... OMIM:249700
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... OMIM:213980
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Cryptorchidism, Short toe, Limita... OMIM:139210
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms OMIM:614017
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Polyhydramnios, Short neck, Accelerated skeletal maturation, Vertebra... ORPHA:373
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms OMIM:612444
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... ORPHA:96169
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Meningocele, Sclerosis of skull base, Sco... OMIM:130720
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... ORPHA:2538
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Cryptorchidism, Hypotrophy of... OMIM:610443
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Azoospermia OMIM:618300
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Pallister-Hall Syndrome
Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Rib fusion, Umbilical hernia... ORPHA:672
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... OMIM:276820
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Polyhydramnios, Facial edema, Abnormal cartilage matrix, Epiphyseal stippling, ... ORPHA:86822
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... ORPHA:233
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... OMIM:271665
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ... ORPHA:1724
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms OMIM:615500
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... OMIM:211350
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ... OMIM:617866
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms OMIM:618801
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Nasal polyposis OMIM:616037
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... OMIM:609053
Cornelia De Lange Syndrome
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Joint stiff... ORPHA:199
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... OMIM:227330
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Spina bifida, Missing ribs, Hemivertebrae, Rib fusi... OMIM:304050
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe... OMIM:194190
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Cryptorchidism, Hemivertebrae, Rib fusion, Supernumerary ribs, Bu... OMIM:206900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Short femoral nec... OMIM:617159
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Deep palmar crease, Sc... OMIM:617190
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Scoliosis, Anterior encephalocele OMIM:601357
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... ORPHA:169805
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosi... OMIM:617796
Atelosteogenesis Type Iii
Polyhydramnios, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypopla... ORPHA:56305
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... OMIM:304120
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Ciliary Dyskinesia, Primary, 38
Absent inner and outer dynein arms OMIM:618063
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly OMIM:149000
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Dela... ORPHA:2273
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Absent inner and outer dynein arms OMIM:614935
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Nasal polyposis OMIM:244400
Arnold-Chiari Malformation Type I
Stiff neck, Areflexia of upper limbs, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C... ORPHA:268882
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Absent inner and outer dynein arms OMIM:615444
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... OMIM:154400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... OMIM:613458
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Cryptorchid... OMIM:122470
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... ORPHA:1225
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... ORPHA:56
Adult-Onset Still Disease
Cartilage destruction, Joint swelling, Arthritis ORPHA:829
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Polyhydramnios, Myelomeningoc... OMIM:306955
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion ... OMIM:268300
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Keutel Syndrome
Calcification of cartilage, Short distal phalanx of finger ORPHA:85202
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Cryptorchidism, Brachydactyly OMIM:616368
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contracture of the distal inter... ORPHA:83617
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... ORPHA:1328
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Edema, Polyhydra... ORPHA:51608
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... ORPHA:444077
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... ORPHA:79474
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling ORPHA:29207
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoar... OMIM:613795
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Ge... OMIM:164210
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteolysis, Osteochondrosis ORPHA:2396
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Polyhydramnios, ... OMIM:214800
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms OMIM:615067
Elsahy-Waters Syndrome
Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Ce... OMIM:211380
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Aprosencephaly Syndrome
Anencephaly, Hand oligodactyly OMIM:207770
Digeorge Syndrome
Pilonidal sinus, Hydrocele testis, Patellar dislocation, Scoliosis, Umbilical hernia, Interverteb... OMIM:188400
Congenital Fibrosis Of Extraocular Muscles
Hand oligodactyly ORPHA:45358

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 Rpl10a

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 Rpl10a.

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

Title Journal IMPC Allele PubMed ID
A stem cell roadmap of ribosome heterogeneity reveals a function for RPL10A in mesoderm production. Nature communications (September 2022) Rpl10atm1a(EUCOMM)Hmgu PMC9485161

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rpl10atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpl10atm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rpl10atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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