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Phf6em1Azbi
Endonuclease-mediated Allele Detail
Summary
Symbol: Phf6em1Azbi
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: Phf6em1Azbi page
Mutation
origin
Strain of Origin:  (C57BL/6 x CBA)F2
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 1 anatomical structures
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:  10 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/21/2023
MGI 6.22
The Jackson Laboratory