Mouse germ line mutations due to retrotransposon insertions

Table 6 SINEs and other L1-mediated insertions

Mutation	MGI ID^a	Strain of origin	Insertion type, location, and orientation^b	Mutational mechanisms or effects	References
Atcay ^ji	1856574	Bagg albino	B1, exon 4, +	B1 insertion causes protein truncation and rare exon skipping	[187, 284]
Comt ^B2i	4819952	Strain variant, likely origin in Lathrop stock	B2, 3′ UTR, +	Premature polyadenylation leads to shortened 3’UTR and increased protein expression. Associated with behavioral difference.	[170, 171]
Gsdma3 ^Dfl	2385837	BALB/c	B2, exon 7, +	B2 causes premature termination, transcript includes B2 sequence	[285]
Ndufs4 ^fky	4942335	Male Dnmt3L +/− x female transgenic RIP-mOVA C57BL/6	B2, exon 3, +	B2 insertion causes exon skipping and premature termination	[286]
Nrcam ^m1J	5444298	B6.129P2-Cnr2tm1Dgen/J	B2, exon 26, −	Aberrant splicing and premature termination	[287]
Poc1a ^cha	2135614	DBA.B6-A^hvy/a x DBA/2J	Gene cDNA, exon 8, −	L1 mediated insertion of Cenpw cDNA in exon 8. Exon 8 is skipped, reading frame preserved	[165]
Ptpn6 ^me-B2	4947257	BALB/c	B2, exon 6, +	Replacement of exon 6 sequence with B2 sequence, reading frame preserved	[288]
Slc27a4 ^wrfr	2445864	(129X1/SvJ x 129S1/Sv)F1	B2, exon 3, −	Coding sequence disruption, no mRNA or protein detected	[289]
Tnf ^Bpsm1	5795894	C57BL/6	B2, 3’UTR, +	Premature polyadenylation leads to shortened 3’UTR and gene overexpression	[172]

ISSN: 1759-8753