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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