Table 2.
ETn/MusD 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 | [121–123] |
| Fbxw4 Dac-2J | 1857834 | MRL/MpJ | Intron 5, + | Small amounts of normal transcript, MusD* insertion disrupts a conserved motif in intron | [121–123] |
| 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] |
aID number in Mouse Genome Informatics (MGI) database, “N” indicates not present in MGI
#- = antisense, + = sense,? = orientation unknown
*MusD insertions are bolded. All others are ETns