| Primary Identifier | MGI:5660409 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Efemp2 |
| Transmission | Germline | Strain of Origin | C57BL/6 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The targeting construct is designed to insert a loxP- and FRT-flanked neomycin resistance cassette, in reverse orientation, downstream of exon 4. The E57K point mutation (GAG to AAG) was introduced in exon 4 resulting in a missense mutation. E57K is found in patients with autosomal recessive cutis laxa (ARCL) 1B. Flp-mediated recombination removed the FRT-flanked neo cassette. |
