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Man2a1tm1Jxm
Targeted Allele Detail
Nomenclature
Symbol: Man2a1tm1Jxm
Name: mannosidase 2, alpha 1; targeted mutation 1, Jamey Marth
MGI ID: MGI:2158937
Synonyms: alphaM-IIdelta
Gene: Man2a1  Location: Chr17:64600736-64755110 bp, + strand  Genetic Position: Chr17, 33.76 cM, cytoband E1.2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:41621
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsHomologous 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Man2a1 Mutation:  34 strains or lines available
References
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory