Gla^tm1Kul
Targeted Allele Detail

Summary

• Symbol: Gla^tm1Kul
• Name: galactosidase, alpha; targeted mutation 1, Ashok B Kulkarni
• MGI ID: MGI:1861794
• Synonyms: alpha-galA^-, alpha-Gal A -/0, Gla-
• Gene: Gla Location: ChrX:133488912-133501707 bp, - strand Genetic Position: ChrX, 56.2 cM, cytoband E-F1
• Alliance: Gla^tm1Kul page

Lipid inclusions with electron-dense concentric lamellar structures in the lysosomes of Gla^tm1Kul/Y renal tubular cells

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:39394
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 1kb genomic fragment containing part of exon 3 and intron 3 was replaced by a neomycin resistance cassette. (J:39394)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Gla Mutation: 20 strains or lines available

References

• Original: J:39394 Ohshima T, et al., alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2540-4
• All: 64 reference(s)