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| Nomenclature |
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Symbol:
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Tg(Mt1-CBS*S466L)EB86Waku
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Name:
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transgene insertion EB86, Warren Kruger
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MGI ID: |
MGI:3851386 |
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Synonyms: |
Tg-S466L |
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Transgene:
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Tg(Mt1-CBS*S466L)EB86Waku
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6 x C3H)F2
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: The mouse promoter was used to drive zinc-inducible expression of the human cDNA with a point mutation that results in the amino acid substitution of lysine for serine at position 466. This mutation was identified in patients with homocystinuria. Three lines were created and line EB86 was selected as the representative line. (J:150703)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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| References |
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Original: |
J:150703
Gupta S et al.,
"Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice."
Hum Mutat 2008 Aug;29(8):1048-54
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All: |
3 reference(s)
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Analysis Tools
