Phf8^tm1.1Cdcn
Targeted Allele Detail

Summary

• Symbol: Phf8^tm1.1Cdcn
• Name: PHD finger protein 8; targeted mutation 1.1, Charlie Degui Chen
• MGI ID: MGI:6370001
• Gene: Phf8 Location: ChrX:150303668-150416855 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Phf8^tm1.1Cdcn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:258245
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 7 and 8, encoding the code region of the JmjC demethylase domain, were flanked by loxP sites. A FRT-flanked neomycin resistance gene was inserted downstream of exon 8 before the second loxP site. Cre-mediated recombination deleted exons 7 and 8 and the selection cassette in the germline. Western blot and immunostaining on brains confirmed absence of protein. (J:258245, J:280387)

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 Phf8 Mutation: 16 strains or lines available

References

• Original: J:258245 Chen X, et al., Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway. Nat Commun. 2018 Jan 9;9(1):114
• All: 2 reference(s)