Table 5.
L1 Insertions
| Mutation | MGI IDa | Strain of origin | L1 length, location and orientationb | Mutational mechanisms or effects | References |
|---|---|---|---|---|---|
| Atp7a Mo-ca | 2387450 | unknown | 81 bp L1, exon 10, − | Aberrant splicing causing in-frame loss of 10 amino acids | [272] |
| Dab1 yot | 1857750 | Chimera of 129 and C57BL/6 | Rearranged partial L1MdTf, intron | Partial gene deletion and atypical 962 bp L1 insertion | [273] |
| Frem1 heb | 1856897 | AKR/J | Unknown length L1, exon 17, + | Transcript and protein truncation | [274] |
| Glrb spa | 1856363 | Random-bred stock | Full length L1MdTf_I intron 6, − | Reduced expression of normal transcript and exon skipping | [275–277] |
| Lama2 dy-Pas | 6220701 | Non-inbred Agouti | Nearly full length L1MdTf_II and 3′ transduction, intron 34, + | Transcript contains internal IAP sequence, Truncated protein. L1-mediated retrotransposition event involving an L1 and 3′ transduced IAP LTR |
[163] |
| Lyst bg | 1855968 | C3H/Rl X 101/R1 (from radiation exp.) | 1.1 kb 5′ truncated L1, intron, + | Two alternatively spliced transcripts containing L1 sequence results in two truncated forms of the protein | [278, 279] |
| Mitf mi-bw | 1856089 | C3H | Full length L1MdTf_II, intron 3, + | Decreased expression and exon skipping of two isoforms and abolished expression of the third isoform | [280] |
| Nr2e3 rd7 | 1859180 | 77-2C2a-special- JAX | Full length L1MdTf_I with 28 bp 5′ transduction, exon 5, − | Accumulation of incompletely spliced transcripts. | [162] |
| Pde6c cpfl1 | 2657247 | Recom. Inbred CXB1/ByJ | 1.5 kb insertion of truncated L1 & likely 3′ transduction, Intron 4, − | Aberrant splicing within inserted sequence causes inclusion of extra 116 bp exon and frame shift. | [164] |
| Reln rl-Orl | 1856416 | BALB/c | Full length L1MdTf_I exon 59, + | 220 bp deletion in mRNA due to skipping of exon containing L1 | [281] |
| Scn8a med | 1856078 | PCT | 180 bp 5′ truncated L1, Exon 2, − | Skipping of exon containing L1, loss of functional protein | [282] |
| Ttn mdm | 1856953 | C57BL/6J | 2.4 kb L1, exon 3, + | 779 bp gene deletion and L1 insertion causes exon loss or chimeric transcripts | [283] |
aID number in Mouse Genome Informatics (MGI) database
b- = antisense, + = sense,? = orientation unknown