Primary Identifier | MGI:3770755 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Efemp1 |
Inheritance Mode | Dominant | Transmission | Germline |
Strain of Origin | 129X1/SvJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | Amino acid 345 was targeted for an arginine to tryptophan mutation (R345W) by changing a CGA codon to a TGG codon within exon 10. An upstream BsmI restriction site 4 bp upstream of the codon was also mutated to aid in genotype screening, and a floxed neomycin resistance cassette was inserted into intron 11 for colony selection. Germline-transmitting chimeras were bred with Cre-transgenic mice to delete the neo cassette. Mutant protein was detected in the retina of homozygote mice by immunohistochemistry. |