About   Help   FAQ
Galnstm1Toma
Targeted Allele Detail
Nomenclature
Symbol: Galnstm1Toma
Name: galactosamine (N-acetyl)-6-sulfate sulfatase; targeted mutation 1, Shunji Tomatsu
MGI ID: MGI:2686931
Synonyms: Galns-
Gene: Galns  Location: Chr8:122578238-122611487 bp, - strand  Genetic Position: Chr8, 71.91 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87155
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 1.8 kb fragment encompassing portions of intron 1 and exon 2 was deleted via homologous and cre-mediated recombination. A single loxP site remained in place of the deleted region. Transcript was undetected in homozygous mutant mice by Northern blot and RT-PCR analyses. Furthermore, homozygous mutant mice showed no GALNS enzmye activity. (J:87155)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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 Galns Mutation:  3 strains or lines available
References
Original:  J:87155 Tomatsu S, et al., Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003 Dec 15;12(24):3349-58
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory