banner
Genes Phenotypes Help, News, Blog

Gene: Mir196a-1 MGI:2676860

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
microRNA 196a-1
Synonyms:
mmu-mir-196a-1,  Mirn196,  Mirn196a-1

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 Mir196a-1 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 Mir196a-1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Kyphomelic Dysplasia
Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, Micrognathia, Short thorax... ORPHA:1801
Spondylocostal Dysostosis 5
Vertebral fusion, Missing ribs, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Supernumer... OMIM:122600
Poland Syndrome
Unilateral oligodactyly, Hemivertebrae, Rib fusion, Short ribs, Sprengel anomaly OMIM:173800
Diaphanospondylodysostosis
Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnor... ORPHA:66637
Thoracomelic Dysplasia
Hyperlordosis, Bell-shaped thorax, Short ribs, Narrow chest, Limb undergrowth ORPHA:1803
Fibrochondrogenesis 2
Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... ORPHA:168549
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Thoracic platyspondyly, Narrow chest, Short ribs, Limb undergrowth, Beaking of vertebral bodies, ... OMIM:618961
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Kyphosis, Cupped ribs, Hypopla... OMIM:156530
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Wide-cupped costochondral junctions, Platyspondyly,... OMIM:187601
Achondrogenesis, Type Ib
Narrow chest, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia OMIM:600972
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Bell-shaped thorax, Platyspondyly, Short ribs, Scoliosis, Short... OMIM:602557
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Missing ribs, Short thorax, Abnormal rib morphology, Vertebral segmentation defect... ORPHA:1797
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Pectus carinatum, Short ... OMIM:613330
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Short ribs, Nar... ORPHA:93296
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Lateral clavicle hook, Platys... OMIM:269250
Chondrodysplasia, Blomstrand Type
Short ribs, Narrow chest, Micromelia, Micrognathia OMIM:215045
Seckel Syndrome 4
11 pairs of ribs OMIM:613676
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia, Severe limb shortenin... OMIM:151210
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Beaded ribs, Broad cla... OMIM:200600
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Three M Syndrome 1
Scapular winging, Hyperlordosis, Pectus excavatum, Increased vertebral height, Short thorax, Shor... OMIM:273750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Micromelia, Lateral clavicle hook, Hypoplasia of the radius, Short ribs, Nar... OMIM:617895
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Anterior rib cupping, Long clavicles, Thin clavicles, Small han... OMIM:228520
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Kyphosis, Micrognathia OMIM:618393
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Pectus carinatum, Narrow chest, Short palm, Short ti... OMIM:607778
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Short ribs, Thoracic hypoplasia OMIM:615630
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs, Short ribs... OMIM:271520
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest OMIM:617661
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Kyphoscoliosis ORPHA:1145
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Narrow ches... OMIM:187600
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micromelia, Micrognathia, Missing ribs, Vertebral wedging, Platyspondyly, Short ribs, Thoracic hy... OMIM:617866
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Mesomelic/rhizomelic limb shortening, Hypoplastic vertebral bodies, Coronal... ORPHA:2347
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Beaded ribs, Micrognathia, Platyspondyly, Short ribs, Limb u... OMIM:616897
Dysosteosclerosis
Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Irregular... OMIM:224300
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs, Horizon... OMIM:200610
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Micromelia, Bell-shaped thorax, Short ribs, Narrow chest ORPHA:1842
Hypophosphatasia, Infantile
Micromelia, Vertebral clefting, Platyspondyly, Short ribs, Unossified vertebral bodies, Short low... OMIM:241500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Bell-shaped thorax, Narrow chest, Short ribs, Severe platyspondyly OMIM:613320
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal OMIM:618724
Greenberg Dysplasia
Micromelia, Micrognathia, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... OMIM:215140
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short f... OMIM:250420
Pallister-Hall-Like Syndrome
Short ribs, Micromelia, Micrognathia OMIM:241800
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Hemivertebrae, R... OMIM:613686
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Broad ribs, Short ribs, Scoliosis OMIM:252600
Atelosteogenesis Type Ii
Short metacarpal, Short femur, Rhizomelia, Thoracolumbar kyphoscoliosis, Micromelia, Cervical kyp... ORPHA:56304
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Thin ribs, Platyspondyly, Hypoplasia of the calcaneus, Distal short... OMIM:300863
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Hemi... OMIM:109400
Braddock Syndrome
Missing ribs, Pectus excavatum, Micrognathia, Hemivertebrae, Scoliosis ORPHA:52047
Bent Bone Dysplasia Syndrome 2
Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Short tibia, Short ... OMIM:620076
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Long c... ORPHA:2839
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Kyphosis, Short mi... OMIM:119600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Micromelia, Thoracic dysplasia, Short ribs, Narrow chest, Mesomelia, Short ... OMIM:614091
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Rhizomelia, Aplastic clavicle, Micrognathia, Short thorax, Platyspondyly, Narro... ORPHA:50945
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Micrognathia, Short ribs, Narrow chest, Limb undergrowth, Anisospondyly ORPHA:1865
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Missing ribs, Kyphosis, Hemiv... ORPHA:2911
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Hypoplasia of the radius, Short ribs, Short tibia, Butter... OMIM:607143
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Lateral clavicle hook, Abnormal form of the vertebral bodies, F... ORPHA:3144
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Short femur, Short ribs, Short femoral neck, Narrow vertebral i... OMIM:100800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Lateral clavicle hook, Fibular hypoplasia, Short rib... OMIM:613091
Prieto Syndrome
11 pairs of ribs OMIM:309610
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Thoracic dysplasia, Narrow chest OMIM:615503
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Long clavicles, Micrognathia, Rhizomelic leg shortening, Twelfth... ORPHA:397715
Meier-Gorlin Syndrome 1
Absent sternal ossification, Micrognathia, Lateral clavicle hook, Aplasia/Hypoplasia of the patel... OMIM:224690
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Disproportionate shortening of the tibia, Platyspondyly,... OMIM:263520
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Short ribs, Narrow chest, Micromelia, Micrognathia OMIM:224400
Cdags Syndrome
Kyphosis, Short ribs, Short clavicles OMIM:603116
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Micrognathia, Absent middl... OMIM:308050
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short thorax, Short foot, Thoracic dysplasia, Narrow chest, Shor... OMIM:269860
Pyknoachondrogenesis
Micromelia, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Horizontal ribs ORPHA:3003
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Hyperparathyroidism, Transient Neonatal
Short femur, Undulate ribs, Thin ribs, Short ribs, Narrow chest, Fractured rib OMIM:618188
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum OMIM:618624
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Anterior rib cupping, Micromelia, Micrognathia, Pectus excavatum, Hypoplasia of... OMIM:271665
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... OMIM:613803
Nail-Patella Syndrome
Lumbar hyperlordosis, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Patellar hypo... OMIM:161200
Thoraco-Abdominal Enteric Duplication
Missing ribs ORPHA:1759
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Micrognathia, M... OMIM:608022
Ellis-Van Creveld Syndrome
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum OMIM:225500
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Rhizomelia, Long clavicles, Micro... OMIM:108720
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Rhizomelia, Cupped ribs, Short toe, Horizontal inferior borde... OMIM:250220
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Fibular hypoplasia, Bell-shaped thorax, Short ribs, Narrow chest, ... OMIM:616300
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Verte... ORPHA:1834
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Pectus excav... OMIM:600920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Thoracic dysplasia, Short ribs... OMIM:208500
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplas... OMIM:617604
Ritscher-Schinzel Syndrome 1
Hemivertebrae, Missing ribs, Micrognathia OMIM:220210
Metaphyseal Chondrodysplasia, Jansen Type
Short ribs, Micrognathia OMIM:156400
Caudal Regression Syndrome
Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnormal... ORPHA:3027
Weaver Syndrome
Kyphosis, Short fourth metatarsal, Short ribs, Scoliosis OMIM:277590
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Fibular hypoplasia, Long thorax, Narrow chest, Short ribs, S... OMIM:617925
Seckel Syndrome 5
11 pairs of ribs, Short middle phalanx of finger, Scoliosis, Micrognathia OMIM:613823
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Micrognathia, Short distal phalanx of the 5th finger, Short foot, Scoliosis, Sh... OMIM:620073
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Hemivertebrae, Narrow chest, Short tibia, Abnormality of the costochondral junction... ORPHA:96334
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Pectus excavatum, Short toe, Prominent sternum, Spina bifida occulta, Short 5th... OMIM:617877
Cree Mental Retardation Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the ribs, Micrognathia OMIM:606851
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missing ribs, Hypopla... OMIM:200980
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal rib morphology, Tetraamelia ORPHA:3301
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia OMIM:618356
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Hypoplasia of the radius, Ovoid thoracolumbar vert... ORPHA:3404
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Micrognathia, Absent radius, Missing ribs, Forearm undergrowth, Narrow ... OMIM:251230
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short ribs, Aplastic clavicle, Narrow chest, Micromelia OMIM:616546
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Focal Dermal Hypoplasia
Short ribs, Scoliosis, Short clavicles ORPHA:2092
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Micrognathia, Short toe, Short thorax, Short metatarsal, Absent middle phalanx of 5th... OMIM:266920
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Small abnormally formed scapulae, Micrognat... ORPHA:140
3C Syndrome
Missing ribs, Micrognathia, Kyphosis, Hemivertebrae, Scoliosis ORPHA:7
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Short tibia, Fibular hypoplasia, Micrognathia OMIM:201170
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Scoliosis, Micrognathia OMIM:616266
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Missing ribs OMIM:619859
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Short distal phalanx of finger, Missing ribs, Aplasia/Hypoplasia of the ... ORPHA:1647
Cranioectodermal Dysplasia 1
Short humerus, Rhizomelia, Pectus excavatum, Short toe, Short thorax, Fibular hypoplasia, Short r... OMIM:218330
Hallermann-Streiff Syndrome
Micrognathia, Small hand, Short foot, Rib exostoses, Short ribs ORPHA:2108
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Bilateral ulnar hypoplasia, Hypoplastic sacrum, Thoracolumbar scoliosis, Microg... OMIM:268310
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent thumb, Absent radius, Short toe, Hypoplasia... OMIM:154400
Cranioectodermal Dysplasia 2
Rhizomelia, Micrognathia, Pectus excavatum, Short ribs, Narrow chest, Mesomelia, Horizontal ribs OMIM:613610
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the clavicles, Absent sternal ... ORPHA:3472
Seckel Syndrome 1
11 pairs of ribs, Micrognathia, Hypoplasia of proximal fibula, Hypoplasia of proximal radius, Sco... OMIM:210600
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Supernumerary ribs, Scoliosis, Bifid ribs,... ORPHA:50
Shprintzen-Goldberg Syndrome
Micrognathia, Pectus excavatum, Missing ribs, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:2462
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microretrognathia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Mi... ORPHA:508498
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Anomalous rib insertion to vertebrae,... OMIM:117650
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Hypoplasia of first ribs, Short sternum, Broad ribs, Short 1st metacarpal, Short ... OMIM:269150
Joubert Syndrome 21
Bell-shaped thorax, Short ribs OMIM:615636
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Kyphoscoliosis, Micrognathia, Short hallux, Short thumb, Pectus excavatum, Shor... OMIM:304120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Scoliosis, Short palm OMIM:619184
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Scoliosis, Bifid ri... OMIM:304050
Focal Dermal Hypoplasia
Short metacarpal, Short metatarsal, Hand oligodactyly, Midclavicular aplasia, Midclavicular hypop... OMIM:305600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, 11 pairs of ribs, Rhizomelia, Micrognathia, Pectus carinatum, Shoulder disloca... OMIM:245600
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Micromelia ORPHA:50810
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Micrognat... OMIM:134780
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ... ORPHA:3186
Simpson-Golabi-Behmel Syndrome, Type 1
Short palm, Pectus excavatum, Pectus carinatum, Short foot, Vertebral segmentation defect, Cervic... OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Short thorax, Short foot, Narrow chest, Absent or minimally ossified ve... ORPHA:93271
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Thoracic scoliosis, Absent sternal ossifica... OMIM:114290
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Micrognathia, Missing ribs, Hemivertebrae, Rib fusion, ... ORPHA:97360
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ovoid vertebral bodies, Kyphoscoliosis, Micrognathia, Cupped ... OMIM:271640
Leopard Syndrome 1
Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Pectus carinatum, Spina bifida ... OMIM:151100
Orofaciodigital Syndrome Xiv
Microretrognathia, Short ribs, Aplasia of the epiglottis, Micrognathia OMIM:615948
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Hemivertebrae OMIM:264480
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Kyphoscoliosis, Scoliosis, Micrognathia OMIM:618947
Wiedemann-Steiner Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the ribs, Rhizomelia ORPHA:319182
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Limb undergrowth, Pectus excavatum, Scoliosis ORPHA:488632
Diamond-Blackfan Anemia 1
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplasia of the radius, Hypoplastic ... OMIM:105650
6Q Terminal Deletion Syndrome
Aplasia/Hypoplasia of the ribs, Scoliosis, Micrognathia ORPHA:75857
Jacobsen Syndrome
Pectus excavatum, Missing ribs, Micrognathia OMIM:147791
Orofaciodigital Syndrome Vi
11 pairs of ribs, Fibular aplasia, Short femur, Micrognathia OMIM:277170
Jacobsen Syndrome
Short toe, Scoliosis, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2308
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Long clavicles, Shoulder flexion ... OMIM:210710
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Coronal cleft vertebrae, Micrognathia OMIM:620025
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Sacral segmentation defect, Hemivertebrae OMIM:258040
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Small hand, Micrognathia OMIM:620005
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Micrognathia, Missing ribs, Small hand... ORPHA:3310
1P36 Deletion Syndrome
11 pairs of ribs, Kyphosis, Rib fusion, Short foot, Scoliosis, Bifid ribs ORPHA:1606
Floating-Harbor Syndrome
11 pairs of ribs, Kyphoscoliosis, Short middle phalanx of the 2nd finger, Short clavicles, Short ... OMIM:136140
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Kyphoscoliosis, Short thumb, Shield chest, Short clavicles ORPHA:2044
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Hemivertebrae, Short 5th fi... ORPHA:79500
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Rib fusion, Short foot, Short 5th finger, Scoliosis, Bifid ribs OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs OMIM:615287
Pallister-Killian Syndrome
11 pairs of ribs, Rhizomelia, Kyphoscoliosis, Micrognathia, Mesomelic/rhizomelic limb shortening,... OMIM:601803

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 Mir196a-1

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 Mir196a-1.

No publications found that use IMPC mice or data for Mir196a-1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mir196a-1tm1(mirKO)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter