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| Nomenclature |
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Symbol:
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Glb1tm1Azzo
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Name:
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galactosidase, beta 1;
targeted mutation 1, Alessandra d'Azzo
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MGI ID: |
MGI:3579514 |
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Synonyms: |
Beta-gal-, GM1 gangliosidosis bgal- |
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Gene:
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Glb1
Location:
Chr9:114401119-114474377 bp, + strand
Genetic Position: Chr9,
64.4 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:38620
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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 neomycin resistance gene was inserted into exon 6. Northern blot of kidney, brain and liver from 1 month old mice confirmed absence of transcript. (J:38620)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:38620
Hahn CN et al.,
"Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase."
Hum Mol Genet 1997 Feb;6(2):205-11
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All: |
16 reference(s)
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