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| Nomenclature |
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Symbol:
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Hexatm1Rlp
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Name:
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hexosaminidase A;
targeted mutation 1, Richard L Proia
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MGI ID: |
MGI:1857181 |
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Synonyms: |
Hexa-, Tay-Sachs, Tay-Sachs hexa- |
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Gene:
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Hexa
Location:
Chr9:59539667-59565105 bp, + strand
Genetic Position: Chr9,
32.02 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:21008
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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 cassette was inserted into and disrupted exon 8 of the gene. Northern blots of liver homogenates from homozygous mutant mice showed no detectable transcript. This mutation resulted in the production of no detectable functional protein. (J:21008)
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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:21008
Yamanaka S et al.,
"Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease."
Proc Natl Acad Sci U S A 1994 Oct 11;91(21):9975-9
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All: |
8 reference(s)
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Analysis Tools
