Phf6^em1Pick
Endonuclease-mediated Allele Detail

Summary

• Symbol: Phf6^em1Pick
• Name: PHD finger protein 6; endonuclease-mediated mutation 1, David J Picketts
• MGI ID: MGI:6726119
• Synonyms: Phf6^R342X
• Gene: Phf6 Location: ChrX:52001143-52045820 bp, + strand Genetic Position: ChrX, 29.28 cM, cytoband A4
• Alliance: Phf6^em1Pick page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:306383
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced a C to T point mutation in exon 10 that results in a premature stop codon at position 342 (R342*). (J:306383)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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:306383 Ahmed R, et al., Transgenic mice with an R342X mutation in Phf6 display clinical features of Borjeson-Forssman-Lehmann Syndrome. Hum Mol Genet. 2021 May 12;30(7):575-594
• All: 2 reference(s)