Trp63tm3Aam
Targeted Allele Detail
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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
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Alliance: |
Trp63tm3Aam page
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Germline Transmission: |
Earliest citation of germline transmission:
J:294158
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Parent Cell Line: |
AB2.2 (ES Cell)
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Strain of Origin: |
129S7/SvEvBrd-Hprtb-m2
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Allele Type: |
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Targeted (Conditional ready, Humanized sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Trp63 Mutation: |
39 strains or lines available
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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) |
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