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Table 5 L1 Insertions

From: Mouse germ line mutations due to retrotransposon 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 [275,276,277]
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]
  1. aID number in Mouse Genome Informatics (MGI) database
  2. b- = antisense, + = sense,? = orientation unknown