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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