Galns^tm1Toma
Targeted Allele Detail

Summary

• Symbol: Galns^tm1Toma
• Name: galactosamine (N-acetyl)-6-sulfatase; targeted mutation 1, Shunji Tomatsu
• MGI ID: MGI:2686931
• Synonyms: Galns^-
• Gene: Galns Location: Chr8:123304981-123338202 bp, - strand Genetic Position: Chr8, 71.91 cM
• Alliance: Galns^tm1Toma page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 26 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: 4 reference(s)