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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 was removed via cre-mediated recombination. Mutant transcript accounts for approximately 8% of the total Trp63 transcript pool in heterozygous epidermis. (J:294158)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
