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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