Manba^tm1Khf
Targeted Allele Detail

Summary

• Symbol: Manba^tm1Khf
• Name: mannosidase, beta A, lysosomal; targeted mutation 1, Karen H Friderici
• MGI ID: MGI:3617002
• Gene: Manba Location: Chr3:135191372-135277165 bp, + strand Genetic Position: Chr3, 62.65 cM, cytoband H2
• Alliance: Manba^tm1Khf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:105427
• 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: 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)

Disease models

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Manba Mutation: 216 strains or lines available

References

• 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
• All: 2 reference(s)