Primary Identifier | MGI:6477383 | Allele Type | Targeted |
Attribute String | Conditional ready, Humanized sequence | Gene | Trp63 |
Transmission | Germline | Strain of Origin | 129S7/SvEvBrd-Hprt1<b-m2> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |