Galns^{tm2(GALNS)Toma}
Targeted Allele Detail

Summary

• Symbol: Galns^{tm2(GALNS)Toma}
• Name: galactosamine (N-acetyl)-6-sulfatase; targeted mutation 2, Sunji Tomatsu
• MGI ID: MGI:3612971
• Synonyms: Galns^{tm(hC79S-mC76S)slu}
• Gene: Galns Location: Chr8:123304981-123338202 bp, - strand Genetic Position: Chr8, 71.91 cM
• Alliance: Galns^{tm2(GALNS)Toma} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104126
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Galns^{tm2(GALNS)Toma} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  GALNS (2588)

  Galns

  (MGI:1355303)

• Mutation details: A C76S point mutation was inserted into exon 2 as well as human GALNS cDNA sequence containing a C79S mutation was inserted into intron 1. Northern blot analysis detected human transcript in substantial amounts in mutants. (J:104126)

Disease models

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: 24 strains or lines available

References

• Original: J:104126 Tomatsu S, et al., Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005 Nov 15;14(22):3321-35
• All: 2 reference(s)