Trp63^tm3.2Aam
Targeted Allele Detail

Summary

• Symbol: Trp63^tm3.2Aam
• Name: transformation related protein 63; targeted mutation 3.2, Alea A Mills
• MGI ID: MGI:6477385
• Synonyms: p63^Aam3, Trp63^Aam3
• Gene: Trp63 Location: Chr16:25502513-25710842 bp, + strand Genetic Position: Chr16, 17.37 cM
• Alliance: Trp63^tm3.2Aam 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 (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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. The neomycin cassette and exons 5 to 7 encoding the DNA binding domain were removed via cre-mediated recombination generating a null allele. (J:294158)

Expression

In Mice Carrying this Mutation:	15 assay results
In Structures Affected by this Mutation:	3 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: 60 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)