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Gene: Hoxd4 MGI:96208

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

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 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
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
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
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Poland Syndrome
Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly OMIM:173800
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis OMIM:309620
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Hypoplasia of the odontoid pro... OMIM:156530
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Fused cervical vertebrae, Scoliosis, Short neck OMIM:618469
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Wide anterior fontanel, Abnormal rib morphology, Abnormal form ... ORPHA:2021
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ribs, Flaring ... ORPHA:168549
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... ORPHA:2180
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs ORPHA:2759
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... OMIM:618395
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Vertebral segmentation defect, S... ORPHA:1988
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal c... ORPHA:2347
Juberg-Hayward Syndrome
Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Thin ribs, Scoliosis, Biconcave vertebral bodies OMIM:259420
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:628
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Thin ribs OMIM:300863
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia OMIM:166210
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Thin ri... 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
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Cole-Carpenter Syndrome
Kyphosis, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture OMIM:616229
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Short thorax, ... ORPHA:2616
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Wide ante... OMIM:228520
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla... OMIM:200600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Cerebrofaciothoracic Dysplasia
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... ORPHA:1394
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal rib morphology, Short neck ORPHA:3082
Cooper-Jabs Syndrome
Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Scoliosis, Short clavicles, Anisospondyly ORPHA:2484
Prune Belly Syndrome
Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis ORPHA:2970
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Wide anterior fontanel, Vertebral arch anomaly ORPHA:85184
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr... ORPHA:1834
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Pectus c... ORPHA:958
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Wide anterior fontanel, Thin ribs, Platyspondyly, Scoliosis, Verte... OMIM:610915
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Broad ribs, Flaring of rib cage OMIM:612852
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal rib morphology, Hyperlordosis ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Platyspondyly, Narrow chest, Scoliosis, Br... OMIM:613848
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:1318
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Alagille Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp... ORPHA:52
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf... OMIM:620076
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Radio-Renal Syndrome
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Trisomy 13
Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:3378
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Cenani-Lenz Syndrome
Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Hemivertebrae, Abnormal ri... ORPHA:2911
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis ORPHA:96061
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Short ribs, Unossified sacrum, Horizont... ORPHA:3003
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib morphology... ORPHA:1452
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal intervertebral disk morphology, Abnormal rib morphology, ... ORPHA:887
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... ORPHA:175
Hypophosphatasia
Abnormal rib morphology, Narrow chest ORPHA:436
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic hypoplasia OMIM:211350
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Scolios... ORPHA:93473
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
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis ORPHA:1300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis ORPHA:2215
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Pectus excavatum, Wide anterior fontanel, Narrow chest, Scoliosis, Verteb... OMIM:610682
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:77301
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Short neck, Hyperlordosis, Kyphosis,... ORPHA:800
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... ORPHA:249
Otopalatodigital Syndrome Type 2
Abnormal vertebral segmentation and fusion, Abnormal rib morphology, Narrow chest, Scoliosis ORPHA:90652
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Osteogenesis Imperfecta
Multiple rib fractures, Cervical kyphosis, Pectus excavatum, Kyphosis, Vertebral compression frac... ORPHA:666
Myhre Syndrome
Platyspondyly, Abnormal rib morphology ORPHA:2588
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Wide anterior fontanel, Abnormal rib morphology, Narrow chest, Scoliosis, A... ORPHA:95699
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal rib morphology, Scoliosis, Abnormal form of the vertebral ... ORPHA:581
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck ORPHA:261112
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation d... ORPHA:373
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal vertebral morphology, Abnormal rib morphology, Scoliosis OMIM:192350
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Abnormal rib morphology, Scoliosis ORPHA:534
Dextrocardia
Abnormal rib morphology ORPHA:1666
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Scoliosis ORPHA:138
Trisomy 18
Abnormal rib morphology ORPHA:3380
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Townes-Brocks Syndrome
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:857
Charge Syndrome
Abnormal rib morphology, Hemivertebrae, Down-sloping shoulders, Scoliosis OMIM:214800
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest 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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