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Table 4 Other ERV Insertions

From: Mouse germ line mutations due to retrotransposon insertions

Mutation MGI IDa Strain of Origin ERV, Location, Orientationb Mutational mechanisms or effects References
Agtpbp1 pcd-2J 1856536 SM/J ERV-β2/ETnERV3, Intron 13, + Greatly reduced full length gene transcripts [264]
Etn2 Sd 1857746 Danforth’s posterior duplication stock ERVβ-2/ETnERV3, 12 kb upstream, + Overexpression of Ptf1a and two neighboring genes, acts as an enhancer [140,141,142]
Nox3 het 1856606 GL/Le Presumed ERVβ-2/ETnERV3, Intron 12, + Transcripts show aberrant splicing from Nox3 into retroviral element [139, 265]
Prph2 Rd2 1856523 O20/A ERVβ-2/ETnERV3, Exon 2, − Transcripts contain entire ERV, coding sequence disruption [266, 267]
Ednrb s 1856148 Fancy mice ERVβ-4, Intron 1, + Aberrant splicing and premature polyadenylation [268]
a 1855937 Fancy mice VL30, Intron 1, −; ERVβ-4 within VL30, + Smaller gene mRNA and levels 8 fold lower than in wild-type. Aberrant splicing and premature termination within the ERVβ-4 [22, 143]
Dock7 m 1856946 JAX Dilute Brown MERV-L, Exon 18, + Frameshift and premature termination [269, 270]
Fgf5 go-moja 6147688 ICR Partial MTA MaLR, Intron 2, − 498 bp insertion is combined with 9.3 kb deletion of exon 3 and flanking sequence, no detectable transcripts [158]
Grm1 crv4 3664783 BALB/c/Pas MERV-L solitary LTR, intron 4, + Aberrant splicing and premature termination, transcripts contain LTR sequence [271]
Npc1 m1N 1857409 BALB/c Partial MERV-L, Exon 9 824 bp partial and rearranged MERV-L combined with 703 bp deletion. Transcripts contain MERV-L sequence, decreased expression, premature truncation [159]
  1. aID number in Mouse Genome Informatics (MGI) database
  2. b- = antisense, + = sense,? = orientation unknown