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

Symbol: Glatm1Kul 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: Glatm1Kul page

Lipid inclusions with electron-dense concentric lamellar structures in the lysosomes of Glatm1Kul/Y renal tubular cells Show the 1 phenotype image(s) involving this allele.

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

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)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Gla Mutation:	16 strains or lines available

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:	62 reference(s)