Fktn^tm1Ttd
Targeted Allele Detail

Summary

• Symbol: Fktn^tm1Ttd
• Name: fukutin; targeted mutation 1, Tatsushi Toda
• MGI ID: MGI:3577652
• Gene: Fktn Location: Chr4:53713745-53765785 bp, + strand Genetic Position: Chr4, 28.74 cM
• Alliance: Fktn^tm1Ttd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:97950
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• A neomycin resistance gene replaced exon 2, removing the sequence encoding amino acids 1-35. (J:97950)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Fktn Mutation: 44 strains or lines available

Notes

Chimeric mice are dystrophic with an inability to walk a straightline and drag their feet (J:87120). Muscle weakness is also apparent in a hanging wire grip test and positional instability in the rotor-rod test (J:87120). Several brain and eye abnormalities are also present (J:87120). Myelination of peripheral nerves is defective and the chimeric mouse is a model for Fukuyama-type congenital muscular dystrophy, OMIM ID:253800 (J:122554).

References

• Original: J:97950 Kurahashi H, et al., Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis. 2005 Jun-Jul;19(1-2):208-17
• All: 7 reference(s)