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Gene: Hs6st1 MGI:1354958

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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:
heparan sulfate 6-O-sulfotransferase 1
Synonyms:
6OST1

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 Hs6st1 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.

The table below shows human diseases associated to Hs6st1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Genu valgum OMIM:614880
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Delayed puberty ORPHA:432
Kallmann Syndrome
Obesity, Delayed puberty ORPHA:478

The table below shows human diseases predicted to be associated to Hs6st1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... OMIM:112410
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Avascular necrosis of the capital f... OMIM:132400
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... ORPHA:750
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad phalanx, Short pha... OMIM:618724
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short stature, Short phalanx of finger, Brachydactyly ORPHA:1276
Coloboma Of Macula
Macular coloboma OMIM:120300
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Broad metat... OMIM:615222
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Eiken Syndrome
Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnormal fingertip morpholog... ORPHA:79106
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Acromicric Dysplasia
Short metacarpal, Severe short stature, Cone-shaped epiphysis, Short foot, Short long bone, Short... OMIM:102370
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Short stature, Single transverse palmar crease, Over... OMIM:108120
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali... ORPHA:83468
Odontochondrodysplasia 1
Recurrent respiratory infections, Short metacarpal, Brachydactyly, Short stature, Micromelia, Met... OMIM:184260
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... ORPHA:163966
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Arthrogryposis, Distal, Type 2B1
Short stature, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatar... OMIM:601680
Ruvalcaba Syndrome
Short metacarpal, Short stature, Micromelia, Limited elbow extension, Short metatarsal, Small han... OMIM:180870
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars... OMIM:617102
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Femo... OMIM:608940
Acromesomelic Dysplasia 4
Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Rhizomeli... OMIM:619636
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... OMIM:151200
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis, Short metat... OMIM:190351
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Short stature, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, ... OMIM:612350
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate short stature, Sho... OMIM:602875
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Short stature, Decreased palmar creases, Abnormal fi... ORPHA:2980
Larsen-Like Syndrome
Short stature, Wide anterior fontanel, Radial deviation of the 4th finger, Talipes equinovarus, C... OMIM:608545
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ab... ORPHA:896
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Single transverse palmar crease, Mo... OMIM:615777
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret... OMIM:611717
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Arachnodactyly, Hip dislocation OMIM:614100
Bronchopulmonary Dysplasia
Small for gestational age, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema ORPHA:70589
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... OMIM:614613
Three M Syndrome 3
Short stature, Growth delay, Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Pr... OMIM:614205
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Three M Syndrome 2
Scapular winging, Severe short stature, Short stature, Prominent calcaneus, Slender long bone, Sh... OMIM:612921
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Cutis Laxa-Marfanoid Syndrome
Emphysema, Arachnodactyly, Hip dislocation ORPHA:171719
Idiopathic Bronchiectasis
Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneumonia, Rec... ORPHA:60033
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal... ORPHA:3078
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad hallux, Postnatal growth retardation, Short toe, Short metatarsal, Upper ... ORPHA:439822
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Short stature, Iliac crest serration, H... OMIM:607326
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Talipe... OMIM:616266
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Silver-Russell Syndrome
Short stature, Sandal gap, Postnatal growth retardation, Upper limb asymmetry, Abnormal appendicu... ORPHA:813
Moebius Syndrome
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... OMIM:157900
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Short stature, Large tarsal bones, Recurrent pneumonia, Flared metaphysis, ... OMIM:215150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Me... ORPHA:85167
Dihydropyrimidinase Deficiency
Growth delay, Short phalanx of finger, Talipes equinovarus OMIM:222748
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Clubbing of fingers,... ORPHA:2302
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... OMIM:612387
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Arachnodactyly, Postnatal growth retardation, Metatarsus adductus, Recurrent upper... OMIM:612513
Hypophosphatasia
Emphysema, Short stature, Abnormal metaphysis morphology, Bowing of the long bones ORPHA:436
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Honeycomb lu... ORPHA:79127
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Disproportio... ORPHA:1427
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity OMIM:162370
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Short stature, Limited elbow movement, Calcaneovalgus deformity, Elbo... OMIM:615065
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis ORPHA:254361
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Abnormal shoulder morpholog... ORPHA:1422
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Atelectasis, Short toe, Anencephaly,... OMIM:269860
Greenberg Dysplasia
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... OMIM:215140
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad hallux, Postnatal growth retardation, Slender finger, Small hand, Tibial bowing, Short foot... ORPHA:251028
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Short stature, Single transverse palmar crease, Overlapping toe, Camp... OMIM:114300
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Short stature, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Cam... ORPHA:562528
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Meconium Aspiration Syndrome
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... OMIM:610921
Wiedemann-Steiner Syndrome
Short stature, Tapered finger, Postnatal growth retardation, Contracture of the distal interphala... OMIM:605130
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Larsen Syndrome
Short metacarpal, Short stature, Spatulate thumbs, Elbow dislocation, Dislocated wrist, Short met... OMIM:150250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Short phalanx of finger, Typ... OMIM:600430
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger... OMIM:268305
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,... ORPHA:85438
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epi... ORPHA:96334
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of fin... OMIM:601559
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Short stature, Camptodactyly of finger, Avascular necrosis of the capital femor... ORPHA:77258
Martsolf Syndrome 1
Recurrent respiratory infections, Short metacarpal, Short stature, Metatarsus adductus, Slender u... OMIM:212720
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Neonatal epiph... OMIM:101800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Hypoplasia of the ulna, Short stature, Early ossification of ca... OMIM:208500
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus, Elbow dislo... ORPHA:536532
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Short stature, Sandal gap, Recurrent shoulder dislocation, Long fingers, Calcaneov... ORPHA:230851
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Bowing of the long bones, Arachnodactyly, Repeated pneumothoraces, Phalangeal disl... ORPHA:536467
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short stature, Spontaneous neonatal pneumothorax, Postnatal growth retardation, Wide anterior fon... OMIM:225410
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Broad finger, ... OMIM:300845
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Calcaneovalgus deformity OMIM:225320
X-Linked Intellectual Disability, Hedera Type
Hyporeflexia of upper limbs, Calcaneovalgus deformity ORPHA:93952
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Cl... OMIM:256520
Meier-Gorlin Syndrome 4
Short stature, Patellar aplasia, Birth length less than 3rd percentile, Slender long bone, Intrau... OMIM:613804
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Short metacarpal, Short stature, Toe syndactyly, Short metatarsal, Small hand, ... OMIM:170390
Opsismodysplasia
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic ... OMIM:258480
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis, Weight loss ORPHA:2902
Osteoglophonic Dysplasia
Short metacarpal, Severe short stature, Rhizomelia, Hypoplastic scapulae, Bowing of the long bone... OMIM:166250
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Fanconi Renotubular Syndrome 5
Emphysema, Genu valgum, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Intrauterine growth retardation ORPHA:565624
Farber Disease
Short stature, Nodular pattern on pulmonary HRCT, Abnormality of the hand, Atelectasis, Short toe... ORPHA:333
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly OMIM:600092
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Disprop... ORPHA:508533
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis OMIM:300219
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... OMIM:304120
Nicolaides-Baraitser Syndrome
Long toe, Recurrent respiratory infections, Short metacarpal, Hallux valgus, Short stature, Singl... OMIM:601358
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Single transverse palmar crease, Atelectasis, Recurrent pneumonia, Growth delay, Pulm... OMIM:613177
Meier-Gorlin Syndrome 1
Coxa valga, Elbow dislocation, Aplasia/Hypoplasia of the patella, Flat glenoid fossa, Patellar ap... OMIM:224690
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... OMIM:143095
Ellis Van Creveld Syndrome
Micromelia, Cubitus valgus, Capitate-hamate fusion, Genu valgum, Aplasia/Hypoplasia of the lungs,... ORPHA:289
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Recurrent respiratory infections, Rhizomelia, Short stature, Wide anterior fontanel, Phalangeal c... OMIM:266920
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Metaphyseal dysplasia... OMIM:600373
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Sandal gap, Patellar aplasia, Hip dysplas... OMIM:616835
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Emphysema, Arachnodactyly, Recurrent respiratory infections OMIM:219100
Kid Syndrome
Coxa valga, Postnatal growth retardation, Equinus calcaneus, Patellar hypoplasia, Palmoplantar ke... ORPHA:477
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Short stature, Short phalanx of finger, Delayed puberty OMIM:208060
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx ORPHA:59315
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger ORPHA:521445
Frank-Ter Haar Syndrome
Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Flared metaphysis, Growth ... OMIM:249420
Rothmund-Thomson Syndrome Type 2
Short metacarpal, Short stature, Aplasia/hypoplasia involving bones of the upper limbs, Metaphyse... ORPHA:221016
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Short stature, Mesomelia, Pulmonary artery atresia, Clinodactyly, Short phalanx of fi... OMIM:616894
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Short phal... OMIM:608612
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Short stature, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, P... ORPHA:221008
Mitochondrial Trifunctional Protein Deficiency
Equinus calcaneus ORPHA:746
Marfan Syndrome
Arachnodactyly, Protrusio acetabuli, Equinus calcaneus, Metatarsus adductus, Emphysema, Pneumotho... OMIM:154700
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Growt... OMIM:619269
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Bilateral talipes equinovarus, 2-3 toe syndactyly, Equinus calcaneus ORPHA:522077
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Arachnoda... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Arachnoda... ORPHA:363958
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
22Q11.2 Deletion Syndrome
Short stature, Arachnodactyly, Spina bifida, Atelectasis, Meningocele, Abnormal lung lobation, Oc... ORPHA:567
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Short stature, Atelectasis, Hip dislocation, Genu valgum, Abnor... ORPHA:534
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Keutel Syndrome
Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, Shorte... OMIM:245150
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Short stature,... ORPHA:99646
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... OMIM:130050
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... ORPHA:538
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Decreased body weight ORPHA:258
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Chand Syndrome
Atelectasis, Short fifth metatarsal ORPHA:1401
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Failure to thrive, Pulmonary fibrosis OMIM:618278
Zygomycosis
Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax ORPHA:73263
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... ORPHA:261537
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, R... OMIM:606170
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... ORPHA:261552
Digeorge Syndrome
Short stature, Atelectasis, Recurrent pneumonia, Recurrent sinusitis, Umbilical hernia OMIM:188400
Craniosynostosis And Dental Anomalies
Hallux valgus, Broad hallux, Short stature, 2-3 toe syndactyly, Clinodactyly, Short phalanx of fi... OMIM:614188
Relapsing Polychondritis
Atelectasis ORPHA:728
Pallister-Killian Syndrome
Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesomelic/rhizomelic lim... OMIM:601803
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Genu valgum OMIM:614880
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Delayed puberty ORPHA:432
Kallmann Syndrome
Obesity, Delayed puberty ORPHA:478

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 Hs6st1

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 Hs6st1.

No publications found that use IMPC mice or data for Hs6st1.

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
Hs6st1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hs6st1tm221051(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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