| Primary Identifier | MGI:3053585 | Allele Type | Transgenic |
| Attribute String | Inserted expressed sequence | Gene | Tg(TTR-V30M)14Imeg |
| Inheritance Mode | Semidominant | Strain of Origin | C57BL/6 |
| Is Recombinase | false | Is Wild Type | false |
| description | Hemizygosity for this transgene results in a shortened snout, often accompanied by a twisted upper jaw and malocclusion of the upper mouth, due to defective development of the nasal region derived from the nasal placode. Homozygosity causes more severe deformity, with shorter snout and failure of the nasal bones to ossify by birth. This line has been shown by synteny mapping in mouse-Chinese hamster somatic cell hybrids to have the transgene integrated into Chr 13. |
| 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 showed that five to six copies 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 is expressed ectopically in the head, excluding the brain, of line 14 fetuses at gestational days (E) 10.5 through E15, but not at E9.5. (Transgenic lines not exhibiting the craniofacial phenotype did not express TTR mRNA in head at E10.5.) Human transthyretin was found to associate with the endogenous mouse protein to form chimeric tetramers. |
