Gene Summary

Name:
beta galactoside alpha 2,6 sialyltransferase 2
Synonyms:
C230064G14Rik,  ST6Gal II

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
long tibia St6gal2em1(IMPC)H HOM Late adult 2.24×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Human diseases caused by St6gal2 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 St6gal2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Prenatal Bowing
Bowing of the long bones OMIM:264050
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Tibial Hemimelia
Absent tibia OMIM:275220
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Short palm... ORPHA:2502
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short palm, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac... ORPHA:93317
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac wing, Flat ac... OMIM:610442
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the metaphysis, Long fibula ORPHA:935
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... OMIM:211350
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing ORPHA:85165

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 St6gal2

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 St6gal2.

No publications found that use IMPC mice or data for St6gal2.

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MGI Allele Allele Type Produced
St6gal2em2(IMPC)H Indel causing a Frameshift Mutation Mice
St6gal2tm46592(L1L2_Bact_P) Targeting vectors
St6gal2em1(IMPC)H Indel causing a Frameshift Mutation Mice

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