Fkrp^tm1Qll
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm1Qll
• Name: fukutin related protein; targeted mutation 1, Qi L Lu
• MGI ID: MGI:4834519
• Synonyms: Fkrp^E310del
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm1Qll page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164448
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 3 was replaced with one in which the coding sequence was removed from the glutamic acid coding at position 310 till the stop codon. A floxed neo cassette was inserted downstream of the modified exon 3. The protein is predicted to lack the DxD motif containing C-terminus. (J:164448)

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:164448 Chan YM, et al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet. 2010 Oct 15;19(20):3995-4006
• All: 3 reference(s)