Fkrp^tm2Qll
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm2Qll
• Name: fukutin related protein; targeted mutation 2, Qi L Lu
• MGI ID: MGI:6117737
• Synonyms: L276Ineo+
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm2Qll page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:257098
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 3 was replaced with a modified exon 3 that has a single point mutation from C to A at position 826 resulting in an amino acid change from leucine to isoleucine at position 276. A floxed neomycin resistance cassette was inserted 3 of the coding sequence. (J:257098)

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 Fkrp Mutation: 21 strains or lines available

References

• Original: J:257098 Blaeser A, et al., Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. Hum Genet. 2013 Aug;132(8):923-34
• All: 1 reference(s)