Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox D4
Synonyms:
Hox-5.1,  Hox-4.2

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 Hoxd4 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 Hoxd4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology ORPHA:3268
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:2790
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... ORPHA:1797
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... ORPHA:2635
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis OMIM:259440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2234
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae OMIM:309620
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... OMIM:156530
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused cervical vertebrae, Short neck, Scoliosis, Fused thoracic vertebrae OMIM:618469
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1836
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... ORPHA:2021
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ver... ORPHA:168549
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Abnormal rib morphology, Rib segmentation abnormalities, V... ORPHA:2311
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... OMIM:609616
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1486
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology ORPHA:1703
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology ORPHA:2759
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregu... OMIM:618395
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... OMIM:619698
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Lateral clavicle hook OMIM:615633
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... ORPHA:1988
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax ORPHA:93298
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck,... OMIM:253000
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... ORPHA:2347
Osteogenesis Imperfecta, Type Iii
Thin ribs, Biconcave vertebral bodies, Scoliosis, Kyphosis, Wide anterior fontanel OMIM:259420
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Scoliosis, Abnormal rib morphology ORPHA:2319
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... ORPHA:628
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal rib morphology, Spinal canal stenosis, Short neck, Hype... ORPHA:582
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Thin ribs OMIM:300863
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:392
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures OMIM:166210
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2050
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
3M Syndrome
Thin ribs, Increased vertebral height, Horizontal ribs, Short neck, Hyperlordosis, Scapular wingi... ORPHA:2616
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short... OMIM:228520
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs OMIM:252900
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Ab... ORPHA:239
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Cooper-Jabs Syndrome
Missing ribs, Scoliosis, Abnormal rib morphology ORPHA:1488
Prune Belly Syndrome
Pectus excavatum, Scoliosis, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2970
Phaver Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2876
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis ORPHA:2484
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana... ORPHA:79345
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Wide anterior fontanel, Vertebral arch anomaly ORPHA:85184
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Missing ribs, Short neck, A... ORPHA:1834
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Butterfly verteb... ORPHA:958
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Vertebral compression fracture, Multiple rib fractures OMIM:616229
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosi... OMIM:610915
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs OMIM:200610
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology ORPHA:2097
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Hemiverteb... ORPHA:377
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Thoracic scoliosis, Mult... OMIM:613848
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Dysosteosclerosis
Platyspondyly, Narrow chest, Broad ribs, Increased intervertebral space, Sclerotic scapulae, Hypo... OMIM:224300
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... ORPHA:2769
Alagille Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Butterfly vertebral arch, A... ORPHA:52
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Butterfly vertebrae, Short ribs, Short sternum, Short neck, Coronal cle... OMIM:620076
Trisomy 13
Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:3378
Radio-Renal Syndrome
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Cenani-Lenz Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3258
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Abnormal sternum morphology, Aplasia/Hypoplasia of the... ORPHA:2911
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Scoliosis ORPHA:96061
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Cleidocranial Dysplasia
Hypoplastic scapulae, Narrow chest, Down-sloping shoulders, Short clavicles, Abnormal rib morphol... ORPHA:1452
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Abnormal form of the vertebral bodies,... ORPHA:175
Vacterl/Vater Association
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Abnormal rib morphology, Ver... ORPHA:887
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Hypophosphatasia
Narrow chest, Abnormal rib morphology ORPHA:436
Kyphomelic Dysplasia
Platyspondyly, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Lateral clavicle hook OMIM:211350
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... ORPHA:93473
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... OMIM:206900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormal rib morphology ORPHA:1300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:2215
Osteogenesis Imperfecta, Type Vii
Narrow chest, Multiple rib fractures, Pectus excavatum, Vertebral compression fracture, Scoliosis... OMIM:610682
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Monosomy 9Q22.3
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, Pectus excavatum, Kyphosis ORPHA:77301
Schwartz-Jampel Syndrome
Platyspondyly, Pectus carinatum, Shoulder flexion contracture, Abnormally straight spine, Short n... ORPHA:800
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... ORPHA:249
Otopalatodigital Syndrome Type 2
Narrow chest, Scoliosis, Abnormal rib morphology, Abnormal vertebral segmentation and fusion ORPHA:90652
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Abnormal rib morphology ORPHA:488434
Osteogenesis Imperfecta
Thin ribs, Pectus carinatum, Narrow chest, Cervical kyphosis, Abnormal form of the vertebral bodi... ORPHA:666
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology ORPHA:1647
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology ORPHA:83
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morp... ORPHA:581
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Scoli... ORPHA:95699
Vater/Vacterl Association
Abnormal vertebral morphology, Scoliosis, Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Monosomy 9P
Short neck, Scoliosis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:261112
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral f... ORPHA:373
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Short neck, Abnormal rib morphology, Scoliosis, Kyphosis ORPHA:818
Alagille Syndrome 1
Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Scoliosis, Kyphosis, Abnormal rib morphology ORPHA:534
Dextrocardia
Abnormal rib morphology ORPHA:1666
Charge Syndrome
Scoliosis, Hemivertebrae, Abnormal rib morphology ORPHA:138
Trisomy 18
Abnormal rib morphology ORPHA:3380
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Fraser Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:2052
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal rib morphology ORPHA:2554
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:857
Charge Syndrome
Down-sloping shoulders, Scoliosis, Hemivertebrae, Abnormal rib morphology OMIM:214800
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal rib morphology ORPHA:667
Kindler Epidermolysis Bullosa
Abnormal rib morphology ORPHA:2908

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 Hoxd4

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 Hoxd4.

No publications found that use IMPC mice or data for Hoxd4.

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
Hoxd4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hoxd4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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