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| Nomenclature |
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Symbol:
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B4galt1tm1Shur
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Name:
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UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1;
targeted mutation 1, Barry D Shur
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MGI ID: |
MGI:2178779 |
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Synonyms: |
GalTase-null, gt -, total gt- |
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Gene:
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B4galt1
Location:
Chr4:40804602-40854005 bp, - strand
Genetic Position: Chr4,
20.46 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:37846
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: polyglandular endocrine insufficiency (J:37846).
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
