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B4galnt1tm1Sia
Targeted Allele Detail
Summary
Symbol: B4galnt1tm1Sia
Name: beta-1,4-N-acetyl-galactosaminyl transferase 1; targeted mutation 1, Shinichi Aizawa
MGI ID: MGI:2158348
Synonyms: GalNAcT-, GM2s-KO
Gene: B4galnt1  Location: Chr10:127001094-127008199 bp, + strand  Genetic Position: Chr10, 74.5 cM
Alliance: B4galnt1tm1Sia page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:35787
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA neomycin selection cassette was inserted into exon 4. TLC analysis demonstrated that GM2 or complex gangliosides were absent in the liver and brain of homozygous mice, and enzyme activity assays in liver and brain of homozygous mice confirmed that no functional protein was made from this allele. (J:35787)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any B4galnt1 Mutation:  25 strains or lines available
References
Original:  J:35787 Takamiya K, et al., Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10662-7
All:  26 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory