About   Help   FAQ
Targeted Allele Detail
Symbol: Trp63tm3Aam
Name: transformation related protein 63; targeted mutation 3, Alea A Mills
MGI ID: MGI:6477377
Synonyms: p63Aam1-R279HN, Trp63Aam1-R279HN
Gene: Trp63  Location: Chr16:25502513-25710838 bp, + strand  Genetic Position: Chr16, 17.37 cM
Alliance: Trp63tm3Aam page
Germline Transmission:  Earliest citation of germline transmission: J:294158
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe codon for arginine 318 (AGA) was changed to the codon for histidine (CAT) in exon 7 (R318H) which is equivalent to the R279H mutation in human ectrodactyly, ectodermal dysplasia, clefting syndrome. In addition, a neomycin cassette flanked by loxP sites was inserted upstream of exon 5 and a loxP site was inserted downstream of exon 7. Mutant transcript accounts for approximately 50% of the total Trp63 transcript pool in heterozygous epidermis. (J:294158)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 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 Trp63 Mutation:  39 strains or lines available
Original:  J:294158 Vernersson Lindahl E, et al., An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. Am J Med Genet A. 2013 Aug;161A(8):1961-71
All:  1 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory