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Targeted Allele Detail
Symbol: Gba/Mtx1tm1Bst
Name: metaxin 1; targeted mutation 1, Paul Bornstein
MGI ID: MGI:3652597
Synonyms: GsMdelta
Gene: Mtx1  Location: Chr3:89116388-89121214 bp, - strand  Genetic Position: Chr3, 39.01 cM
Alliance: Gba/Mtx1tm1Bst page
Germline Transmission:  Earliest citation of germline transmission: J:25197
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA targeting vector was designed to insert an A to G mutation resulting in the substitution of serine for asparagine in exon 9 of glucosidase, beta, acid (Gba), replicating the human N370S mutation found in Gaucher disease patients. A PGK-neo cassette was also inserted downstream of the gene into, and replacing 56bp of, exon 8 (the last coding exon) of Mtx1, disrupting the coding region. Gba and Mtx1 are positioned tail-to-tail, so are transcribed convergently. (J:25197)
View phenotypes and curated references for all genotypes (concatenated display).
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 Mtx1 Mutation:  14 strains or lines available
Original:  J:25197 Bornstein P, et al., Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1995 May 9;92(10):4547-51
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
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