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| Nomenclature |
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Symbol:
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Man2a1tm1Jxm
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Name:
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mannosidase 2, alpha 1;
targeted mutation 1, Jamey Marth
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MGI ID: |
MGI:2158937 |
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Synonyms: |
alphaM-IIdelta |
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Gene:
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Man2a1
Location:
Chr17:64600736-64755110 bp, + strand
Genetic Position: Chr17,
33.76 cM, cytoband E1.2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:41621
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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: Homologous recombination inserted a floxed neomycin-thymidine kinase expression cassette downstream of the exon that encodes amino acids 236-258, which is part of the lumenal "stem" domain, and introduced an additional loxP site upstream of the exon. Cre-mediated recombination in ES cells excised the exon, intronic sequences, and the neo-tk sequences, leaving a single loxP site in their place. Functional analyses did not detect enzyme activity in Golgi fractions from tissues from homozygous mutant mice. (J:41621)
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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:41621
Chui D et al.,
"Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis."
Cell 1997 Jul 11;90(1):157-67
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All: |
4 reference(s)
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Analysis Tools
