Tg(282M13-Ank*G389R)1Kng
Transgene Detail

Summary

• Symbol: Tg(282M13-Ank*G389R)1Kng
• Name: transgene insertion 1, David M Kingsley
• MGI ID: MGI:3715537
• Synonyms: Ank^G389R, BAC-Ank^G389R
• Transgene: Tg(282M13-Ank*G389R)1Kng Location: unknown
• Alliance: Tg(282M13-Ank*G389R)1Kng page

Transgene origin

• Strain of Origin: FVB/N or (C57BL/6 x CBA)F1/J

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(282M13-Ank*G389R)1Kng expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Ank (MGI:3045421)	Transgene codes for a protein with a glycine to arginine mutation.

• Mutation details: A point mutation was made in the Ank gene contained within Tg(282M13)1Kng converting a glycine to a arginine at amino acid position 389. This mutation is commonly found in craniometaphyseal dysplasia (CMD) patients and has little to no PPi-transport activity in vitro. (J:122441)

Expression

In Structures Affected by this Mutation:

1 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

Notes

Transgene was inserted into the nuclei of fertilized eggs from FVB/N or (C57BL/6 x CBA)F1/J mice.

References

• Original: J:122441 Gurley KA, et al., Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet. 2006 Dec;79(6):1017-29
• All: 1 reference(s)