Phf6^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Phf6^tm1.1Ics
• Name: PHD finger protein 6; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:7616514
• Gene: Phf6 Location: ChrX:52001143-52045820 bp, + strand Genetic Position: ChrX, 29.28 cM, cytoband A4
• Alliance: Phf6^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 3 and an FRT site flanked neomycin resistance gene cassette and second loxP site were inserted into intron 5. The neo cassette was removed through subsequent Flp-mediated recombination, leaving exons 4-5 floxed. Mutations in the human ortholog are associated with Borjeson-Forssman-Lehmann syndrome (BFLS). (J:342743)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Phf6 Mutation: 12 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)