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B4galt1tm1Shur
Targeted Allele Detail
Nomenclature
Symbol: B4galt1tm1Shur
Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1; targeted mutation 1, Barry D Shur
MGI ID: MGI:2178779
Synonyms: GalTase-null, gt -, total gt-
Gene: B4galt1  Location: Chr4:40804602-40854005 bp, - strand  Genetic Position: Chr4, 20.46 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:37846
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt 1.9kb of sequence of exon 1, which encodes all of the cytoplasmic and transmembran domains as well as part of the extracellular region. Neither the long or short isoform of the encoded protein is expressed from this allele. (J:37846)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 39 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any B4galt1 Mutation:  29 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: polyglandular endocrine insufficiency (J:37846).
References
Original:  J:37846 Lu Q, et al., Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev Biol. 1997 Jan 15;181(2):257-67
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory