Trp63^tm1Cmis
Targeted Allele Detail

Summary

• Symbol: Trp63^tm1Cmis
• Name: transformation related protein 63; targeted mutation 1, Caterina Missero
• MGI ID: MGI:5468661
• Synonyms: p63^L514F
• Gene: Trp63 Location: Chr16:25502513-25710838 bp, + strand Genetic Position: Chr16, 17.37 cM
• Alliance: Trp63^tm1Cmis page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:191121
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A missense mutation results in the amino acid substitution of phenylalanine for lysine at position 514 (L514F). (J:191121)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
• All: 1 reference(s)