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| Nomenclature |
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Symbol:
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Hexatm1Grv
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Name:
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hexosaminidase A;
targeted mutation 1, Roy A Gravel
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MGI ID: |
MGI:2429698 |
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Synonyms: |
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:30899
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Parent Cell Line:
| CGR8 (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: Exon 11 was disrupted by the insertion of a neomycin selection cassette. Northern blot analysis of homozygous mutant mice showed an absence of normal transcript and the presence of an elongated transcript which contained neo sequence. Hydrolysis of 4-MUG-6-sulfate (MUGS) was reduced to less than 5% in homozygous mutant mice. (J:30899)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hexa Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:30899
Phaneuf D et al.,
"Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases."
Hum Mol Genet 1996 Jan;5(1):1-14
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All: |
8 reference(s)
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Analysis Tools
