Gla<tm1Kul> Targeted Allele Detail MGI Mouse (MGI:1861794)

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24