Fkbp1b^tm1Amks
Targeted Allele Detail

Summary

• Symbol: Fkbp1b^tm1Amks
• Name: FK506 binding protein 1b; targeted mutation 1, Andrew R Marks
• MGI ID: MGI:3623214
• Synonyms: Fkbp12.6^-
• Gene: Fkbp1b Location: Chr12:4883174-4891591 bp, - strand Genetic Position: Chr12, 2.09 cM
• Alliance: Fkbp1b^tm1Amks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:107733
• Parent Cell Line: DBA-252 (ES Cell)
• Strain of Origin: DBA/1LacJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A segment including the entire coding sequence was replaced with a neomycin resistance gene. Immunoblot of heart samples confirmed absence of protein. (J:107733)

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 Fkbp1b Mutation: 14 strains or lines available

References

• Original: J:107733 Wehrens XH, et al., FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 2003 Jun 27;113(7):829-40
• All: 7 reference(s)