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| Nomenclature |
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Symbol:
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Manbatm1Khf
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Name:
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mannosidase, beta A, lysosomal;
targeted mutation 1, Karen H Friderici
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MGI ID: |
MGI:3617002 |
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Gene:
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Manba
Location:
Chr3:135485611-135571404 bp, + strand
Genetic Position: Chr3,
62.65 cM, cytoband H2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:105427
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Disruption of out-of-frame exon 5 with a neomycin cassette via homologous recombination resulted in the splicing of exon 4 to exon 6. This resulted in the introduction of a premature translational stop codon. Homozygous mutant mice had no detectable beta-mannosidase activity in any tissue, and heterozygotes had apporoximately half the enzyme activity of wild-type. Alpha-mannosidase activity was increased in the mutants compared to wild-type, especially at older ages. (J:105427)
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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:105427
Zhu M et al.,
"Beta-mannosidosis mice: a model for the human lysosomal storage disease."
Hum Mol Genet 2006 Feb 1;15(3):493-500
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All: |
1 reference(s)
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Analysis Tools
