F9^em1Dlli
Endonuclease-mediated Allele Detail

Summary

• Symbol: F9^em1Dlli
• Name: coagulation factor IX; endonuclease-mediated mutation 1, Dali Li
• MGI ID: MGI:6196100
• Synonyms: F9^Y381D
• Gene: F9 Location: ChrX:59044824-59076119 bp, + strand Genetic Position: ChrX, 33.5 cM, cytoband A6-A7
• Alliance: F9^em1Dlli page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 mediated mutagenesis created a T to G change resulting in an aspartate substitution for tyrosine at amino acid 381. mRNA level in liver tissue is not affected and protein level is similar to wild-type. (J:262204)

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 F9 Mutation: 8 strains or lines available

References

• Original: J:262204 Guan Y, et al., CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse. EMBO Mol Med. 2016 May;8(5):477-88
• All: 1 reference(s)