Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Man2a1tm1Jxm
Name:	mannosidase 2, alpha 1; targeted mutation 1, Jamey Marth
MGI ID:	MGI:2158937
Synonyms:	alphaM-IIdelta
Gene:	Man2a1  Location: Chr17:64907731-65062105 bp, + strand  Genetic Position: Chr17, 33.76 cM, cytoband E1.2
Alliance:	Man2a1tm1Jxm page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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

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)