| Primary Identifier | MGI:5311639 | Allele Type | Transposon induced |
| Attribute String | Modified regulatory region | Gene | Rr16 |
| Strain of Origin | FVB/N | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | The BART6 (pT2/BART3) transposon vector contains (from 5' to 3') an inverted repeat/direct repeat sequence (IR/DR; the SB transposon recognition site [280 bp]), an AD2 splice acceptor and polyA signal sequence, a tyrosinase minigene, a loxP site, polyA signal sequence, a Hox9c-based splice acceptor, and right IR/DR (280 bp). The IR/DR sequences are outward-facing. The 4.1 kb tyrosinase minigene (TyBS) contains the tyrosinase upstream regulatory sequences (2.1 kbp from the BALB/c tyrosinase promoter and the first 65 bp of exon 1), followed by the C57BL/6-derived Tyrs-J cDNA sequence (1.9 kbp including cysteine at amino acid 103, glycine at amino acid 346, and the stop codon with polyA signal). Following insertion, this transposon was mobilized by expression of the SB transposase (CAGGS-SB10). The transposon insertion site in the BART6-TP1H line occurs at 46,829,514 [NCBI37/mm9] on chromosome 14: this is ~180 kb away from Bmp4 (47,003,195-47,010,344 [NCBI37/mm9]). The transposed integration site is tightly linked with the original integration site. The mutation results in altered Bmp4 expression (presumably via a transposition-induced inversion that leads to loss-of-function of an enhancer that is required for expression of BMP4 in the optic vesicle). |
