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| Nomenclature |
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Symbol:
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Hexbtm1Grv
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Name:
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hexosaminidase B;
targeted mutation 1, Roy A Gravel
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MGI ID: |
MGI:2429701 |
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Synonyms: |
Hexb- |
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Gene:
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Hexb
Location:
Chr13:97176332-97198357 bp, - strand
Genetic Position: Chr13,
50.66 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:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129
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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 2 was disrupted by a neomycin selection cassette inserted by homologous recombination. While transcript was undetected by Northern blot analysis of most tissues, truncated transcript was detected in homozygous mutant testes. Hydrolysis of 4-methylumbelliferyl-Beta-D-acetylglucosamine (MUG) and 4-MUG-6-sulfate (MUGS) were both reduced to 1.5% in homozygous mutant mice. Analysis of the aberrant 1.8 kb transcript showed that it did not contain a neo sequence and indicated that it was non-functional. (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 Hexb Mutation:
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64 strains or lines available |
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Notes |
ES cell line = CGR8 (129P2/OlaHsd) or R1 ((129X1/SvJ x 129S1/Sv)F1-Kitl+).
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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: |
7 reference(s)
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Analysis Tools
