Gba/Mtx1^tm1Bst
Targeted Allele Detail

Summary

• Symbol: Gba/Mtx1^tm1Bst
• Name: metaxin 1; targeted mutation 1, Paul Bornstein
• MGI ID: MGI:3652597
• Synonyms: G^sM^delta
• Gene: Mtx1 Location: Chr3:89116388-89121214 bp, - strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba/Mtx1^tm1Bst page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:25197
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A 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)

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: 20 strains or lines available

References

• 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)