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Trp63tm3Aam
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:294158
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
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
References
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)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory