Trp63^tm3Aam
Targeted Allele Detail

Summary

• Symbol: Trp63^tm3Aam
• Name: transformation related protein 63; targeted mutation 3, Alea A Mills
• MGI ID: MGI:6477377
• Synonyms: p63^Aam1-R279HN, Trp63^Aam1-R279HN
• Gene: Trp63 Location: Chr16:25502513-25710842 bp, + strand Genetic Position: Chr16, 17.37 cM
• Alliance: Trp63^tm3Aam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:294158
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The 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)

Disease models

Expression

In Mice Carrying this Mutation:	70 assay results
In Structures Affected by this Mutation:	11 anatomical structure(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 Trp63 Mutation: 59 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)