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Manbatm1Khf
Targeted Allele Detail
Nomenclature
Symbol: Manbatm1Khf
Name: mannosidase, beta A, lysosomal; targeted mutation 1, Karen H Friderici
MGI ID: MGI:3617002
Gene: Manba  Location: Chr3:135485611-135571404 bp, + strand  Genetic Position: Chr3, 62.65 cM, cytoband H2
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 detailsDisruption 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  203 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:  1 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
11/29/2016
MGI 6.06
The Jackson Laboratory