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Table 2 ETn/MusD insertions

From: Mouse germ line mutations due to retrotransposon insertions

Mutation

MGI IDa

Strain of origin

Location & Orientation#

Mutational mechanisms or effects

References

Adcy1 brl

1857405

ICR

Intron 14, +#

Transcripts contain ETn sequence, Transcripts terminate within the ETn

[226, 227]

Bloc1s5 mu

1856106

Stock-t

Intron 3, +

Transcripts contain internal ETn sequence

[228]

Cacna1f nob2

3605845

AXB6/PgnJ

Exon 2, +

Premature termination and alternative splicing within ETn

[229, 230]

Cacng2 stg

1856548

A/J

Intron 2, +

Transcripts contain ETn sequence, Probable termination within ETn

[231, 232]

Cacng2 stg-wag

1856386

MRL/MpJ-Faslpr/J

Intron 1, +

Transcripts contain ETn sequence, Probable termination within ETn

[231, 232]

Cacng2 stg-3J

2155891

BALB/cJ

Intron 2, +

Transcripts contain internal ETn sequence

[231, 232]

Clcn1 adr

1856316

A2G

Intron 12, +

Transcripts contain ETn sequence, Termination within ETn

[233]

Dsg4 hage

3766998

Recom. inbred of MRL/lpr x BXSB

Intron 8, +

Aberrant splicing in ETn causes in frame additional exon of 63 amino acids

[234]

Dysf prmd

3055150

A/J

Intron 4,+

ETn fixed in A/J strain. Aberrant splicing, No detectable dysferlin protein

[235]

Edar Dl-slk

1856017

Stock Tyrp1b Dock7m Rb(4.6)2Bnr

unknown

Transcripts contain ETn sequence, Termination within ETn

[236]

Eml1 heco

5560734

NOR-ICR

Intron 22, +

Aberrant splicing and premature termination, transcripts contain ETn sequence

[237, 238]

Etn3 Ppd

3665247

CD-1

1.6 kb 3′ of Dusp9 gene, −

Upregulates Dusp9 in ES cells, causes phenotype in Polypodia mutant

[120]

Fas lpr

1856334

MRL/Mp

Intron 2, +

Transcripts contain ETn sequence, Termination within ETn

[21, 239, 240]

Fbxw4 Dac

1857833

SM/Ckc

10 kb 5′ of exon 1, −

No evident difference in size or abundance of transcript, MusD* insertion

[121,122,123]

Fbxw4 Dac-2J

1857834

MRL/MpJ

Intron 5, +

Small amounts of normal transcript, MusD* insertion disrupts a conserved motif in intron

[121,122,123]

Fig4 plt1

3716838

‘mixed’ (129/Ola, C57BL/6J, C3H & SJL)

Intron 18, +

Abnormal splicing from exon18 to SA site of EtnII, very low abundance of transcript

[241]

Fign fi

1856870

Random bred

Intron 2, +

Transcripts contain ETn sequence, Probable termination within ETn

[242]

Foxn1 nu-Bc

1856110

SELH/Bc

Intron, −

Transcripts contain internal ETn sequence

[113]

Gli3 pdn

1856282

Jcl:ICR

Intron 3, +

5 alternatively spliced transcripts contain ETn sequence, three terminate within ETn, two terminate as wild-type

[243]

Hk1 dea

2151848

A/J

Intron 4, +

Probable aberrant splicing of ETn sequences into mRNA, Decreased hexokinase activity

[244]

Hsf4 ldis1

3056560

RIIIS/J

Intron 9, +

ETn alters splicing resulting in a chimeric truncated protein, and causes at least 100 fold up-regulation of the transcript

[245]

Lep ob-2J

1858048

SM/Ckc-Fbxw4Dac

Intron 1, +

Transcripts contain ETn sequence, Probable termination within ETn, Loss of leptin expression.

[23]

Mip Cat-Fr

1857104

A/J

Intron 3, +

Transcripts contain ETn sequence, Termination within ETn, LTR sequence translated to protein domain

[246, 247]

Rubie SWR-J

5568608

SWR/J

Intron 1, +

Aberrant splicing and premature polyadenylation of the long non-coding RNA transcript Rubie which is proposed to regulate Bmp4 expression

[248]

Sgk3 fz-ica

3032837

Swiss

Intron 6, +

Aberrant splicing, transcript contains ETn sequence

[249, 250]

Sil1 wz

3055918

Recomb. inbred CXB5/ByJ

Intron 7, +

Aberrant splicing and premature termination. Transcript contains ETn sequence

[251]

Slc6a5 m1J

5086232

NOD.Cg-Emv30b Prkdcscid/Dvs

Intron 5, +

MusD* insertion, Inclusion of 183 bp of MusD sequence in mRNA, complete loss of protein

[252]

Ttc7 fsn

1856879

A/J

Intron 14, +

Transcripts contain internal ETn sequence

[253]

T Wis

1857760

A/J

splice donor of exon 7, −

8 alternatively spliced transcripts, 4 contain ETn sequence, 1 terminates within ETn, 7 terminate as wild-type, 5 have exon skipping

[254, 255]

Tyr c-Bc3

1856303

SELH/Bc

Exon 1, −

Transcripts probably contain ETn sequence, Probable termination in ETn

[113]

Zhx2 BALB/cJ

3623885

BALB/cJ

Intron 1, +

Transcripts contain ETn sequence, Termination within ETn

[256, 257]

  1. aID number in Mouse Genome Informatics (MGI) database, “N” indicates not present in MGI
  2. #- = antisense, + = sense,? = orientation unknown
  3. *MusD insertions are bolded. All others are ETns