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Trp63tm1Cmis
Targeted Allele Detail
Nomenclature
Symbol: Trp63tm1Cmis
Name: transformation related protein 63; targeted mutation 1, Caterina Missero
MGI ID: MGI:5468661
Synonyms: p63L514F
Gene: Trp63  Location: Chr16:25683763-25892102 bp, + strand  Genetic Position: Chr16, 17.37 cM
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 detailsA missense mutation results in the amino acid substitution of phenylalanine for lysine at position 514 (L514F). (J:191121)
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: 1 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:  29 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/08/2018
MGI 6.12
The Jackson Laboratory