Phf6^em1Azbi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Phf6^em1Azbi
• Name: PHD finger protein 6; endonuclease-mediated mutation 1, Azad Bonni
• MGI ID: MGI:6280442
• Synonyms: PHF6 C99F
• Gene: Phf6 Location: ChrX:52001143-52045820 bp, + strand Genetic Position: ChrX, 29.28 cM, cytoband A4
• Alliance: Phf6^em1Azbi page

Mutation origin

• Strain of Origin: (C57BL/6 x CBA)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced a single nucleotide mutation of G to T at nucleotide 296 in which cysteine at amino acid 99 within the PHD domain is replaced with a phenylalanine (C99F). This is a mutation found in Borjeson-Forssman-Lehmann Syndrome patients. (J:271089)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

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 Phf6 Mutation: 12 strains or lines available

References

• Original: J:271089 Cheng C, et al., Characterization of a Mouse Model of Borjeson-Forssman-Lehmann Syndrome. Cell Rep. 2018 Nov 6;25(6):1404-1414.e6
• All: 3 reference(s)