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Glatm1Kul
Targeted Allele Detail
Nomenclature
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:134588149-134601125 bp, - strand  Genetic Position: ChrX, 56.2 cM, cytoband E-F1
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.

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 detailsA 1kb genomic fragment containing part of exon 3 and intron 3 was replaced by a neomycin resistance cassette. (J:39394)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Gla Mutation:  11 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:  44 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory