Fktn^tm2(FCMD)Ttd
Targeted Allele Detail

Summary

• Symbol: Fktn^tm2(FCMD)Ttd
• Name: fukutin; targeted mutation 2, Tatsushi Toda
• MGI ID: MGI:3690337
• Synonyms: Ftkn^Hp
• Gene: Fktn Location: Chr4:53713745-53765785 bp, + strand Genetic Position: Chr4, 28.74 cM
• Alliance: Fktn^tm2(FCMD)Ttd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:114512
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Fktn^tm2(FCMD)Ttd expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  FKTN (2218)

  Fktn	(MGI:2179507)

• Mutation details: Exon 10 was removed from the locus via Cre mediated expression following the insertion of lox71 and loxP sites. Human FCMD exon 10 cDNA from a patient with Fukuyama Congenital Muscular Dystrophy with the causative retrotransposon was inserted between the lox66 and loxP sites of the targeting construct. Transcript expression level is 5% to 10% of normal. (J:114512)

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 Fktn Mutation: 44 strains or lines available

References

• Original: J:114512 Xiong H, et al., Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006 Dec 1;350(4):935-41
• All: 5 reference(s)