| Primary Identifier | MGI:3053567 | Allele Type | Transgenic |
| Attribute String | Inserted expressed sequence | Gene | Tg(TTR-V30M)62Imeg |
| Strain of Origin | C57BL/6 | Is Recombinase | false |
| Is Wild Type | false |
| description | This is one of six lines created by injection of the same human genomic segment; the others are numbered 1, 14, 41, 53 and 61. Tg(TTRV30M)14Imeg is treated separately, as it exhibits a craniofacial phenotype unique among these transgenic lines. Lines 61 and 62 were used as controls for line 14 and so were subjected to more intensive study than were the other lines without the phenotype. |
| molecularNote | The transgene comprises a 7.6-kilobase genomic DNA fragment containing the entire human transthyretin gene, with a mutation causing substitution of methionine for valine at amino acid position 30, and approximately 0.6 kb of upstream sequence isolated from a patient with familial amyloidotic polyneuropathy. Southern blot analysis revealed that several copies of the transgene had integrated tandemly. Human transthyretin mRNA was expressed in liver and yolk sac and was detected in serum, but not in several other tissues examined, including brain. However, the human transcript was found to be expressed ectopically in the head, excluding the brain, of line 62 fetuses at gestational days (E) 12.5 through E15, but not at E9.5 or E10.5. Human transthyretin was found to associate with the endogenous mouse protein to form chimeric tetramers. |
