Man2a1^tm1Jxm
Targeted Allele Detail

Summary

• Symbol: Man2a1^tm1Jxm
• Name: mannosidase 2, alpha 1; targeted mutation 1, Jamey Marth
• MGI ID: MGI:2158937
• Synonyms: alphaM-II^delta
• Gene: Man2a1 Location: Chr17:64907731-65062105 bp, + strand Genetic Position: Chr17, 33.76 cM, cytoband E1.2
• Alliance: Man2a1^tm1Jxm page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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: 62 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: 5 reference(s)