Fgd4^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Fgd4^tm1.1Ics
• Name: FYVE, RhoGEF and PH domain containing 4; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:5460858
• Synonyms: Fgd4^-
• Gene: Fgd4 Location: Chr16:16234774-16418400 bp, - strand Genetic Position: Chr16, 10.18 cM
• Alliance: Fgd4^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:190437
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The loxP flanked exon 4 was removed via cre-mediated recombination, generating a premature stop codon in exon 5 because of a frame shift. Western blot analysis confirmed lack of protein expression in sciatic nerve. (J:190437)

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 Fgd4 Mutation: 82 strains or lines available

References

• Original: J:190437 Horn M, et al., Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain. 2012 Dec;135(Pt 12):3567-83
• All: 1 reference(s)