129S1/SvImJ

Stock number: 002448
Product name: 129S1
Research areas: Cancer Research, Neurobiology Research, Reproductive Biology Research, Research Tools

Description

129 mice are widely used in the production of targeted mutations due to the availability of multiple embryonic stem cell lines derived from them. They also have a high incidence of spontaneous testicular teratomas.

Detailed description

Historically, the 129 inbred mice are known for the high incidence of spontaneous testicular teratomas, though the incidence differs between substrains (1-3% in 129 parental substrains; 30% in teratoma substrains.) More recently, 129 mice are widely used in the production of targeted mutations due to the availability of multiple embryonic stem cell lines derived from them. There is major genetic variation within the 129 "family", which has led to an update of the nomenclature and a division of the substrains into three major groups: parental substrains (129P), steel substrains (129S) and "teratoma" substrains (129T). Investigators using 129 substrains for targeted mutagenesis should be careful in the selection of the appropriate 129 substrain to match the embryonic stem cell line. For a complete history of the numerous 129 substrains, see Simpson, et al., 1997.

In 2019-2020, researchers at The Jackson Laboratory discovered this inbred strain contains the Trem2^S148E allele - a naturally occurring variant at position 48351151-48351152 on Chr 17 (rs108080490 and rs107649577; Ensembl GRCm38.p6). This TC to GA transition results in a serine to glutamic acid substitution at amino acid 148 (S148E).

Development

129S1/SvImJ was developed to serve as a control inbred strain for many of the steel-derived ES cell lines (e.g. W9.5 and CJ7). SSLP marker analysis indicates that 129S1/SvImJ is identical to 129S1/Sv +^Oca2-p +^Tyr-c Kitl^Sl-J/+ except for the region surrounding the Kitl gene on Chr 10. 129S1/SvImJ was derived from 129S1/Sv-+^Oca2-p +^Tyr-c Kitl^Sl-J/+ (Stock No. 000090). The steel-Jackson mutation (Kitl^Sl-J, formerly Mgf^Sl-J), is segregating in Stock No. 000090. Kitl^Sl-J was removed in 1995, at F26, by selective breeding to produce 129/Sv-+^Oca2-p +^Tyr-c +^Kitl-SlJ (Stock No. 002448, see Simpson et al., 1997). This name was later shortened to simply 129/SvImJ. Subsequently designated 129S3/SvImJ (Festing et al., 1999), this strain was renamed 129S1/SvImJ in February, 2001 to emphasize its relationship to Stock No. 000090.

Allele

Symbol: Disc1^del
Name: deletion
MGI accession ID: MGI:3623217
Generation method: Spontaneous
Marker symbol: Disc1
Marker name: disrupted in schizophrenia 1
Chromosome: 8
Strain of origin: various
Molecular note: A 25 bp deletion in exon 6 causes a frame shift in the reading frame, resulting in 13 novel amino acids and a premature stop codon in exon 7.
General note: This deletion appears in multiple strains of the 129 superfamily, 101/RI, BTBR T⁺ tf/J, LP/J, FVB/NJ, SJL/J, SWR/J and DDY/JclSidSeyFrkJ (J:111837, J:195189).

Allele

Symbol: Cox7a2l^l
Name: long
MGI accession ID: MGI:6276121
Generation method: Not Applicable
Attributes: Not Specified
Marker symbol: Cox7a2l
Marker name: cytochrome c oxidase subunit 7A2 like
Chromosome: 17
Strain of origin: multiple strains
Molecular note: This allele encodes the long isoform with 113 amino acids. It is found in 129S2/SvPasCrl, CBA/CaOlaHsd, Hsd:ICR, and NZB/OlaHsd.
General note: Querying the sequences of the Sanger Mouse Genomes Project reveals that the short allele with its 6 bp deletion exists in C57BL/6J, C57BL/10J, C57BL/6NJ, C58/J, BALB/cJ, C3H/HeH, 129S5/SvEvBrd, NZW/LacZ, and SEA/GnJ, but the long allele lacking the deletion exists in 129S1/SvImJ, A/J, AKR/J, BTBR T⁺ Itpr3^tf/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, CAST/EiJ, CBA/J, DBA/1J, DBA/2J, FVB/NJ, I/LnJ, KK/HiJ, LEWES/EiJ, LP/J, MOLF/EiJ, NOD/ShiLtJ, NZB/BlNJ, NZO/HlLtJ, PWK/PhJ, RF/J, SPRET/EiJ, ST/bJ, WSB/EiJ, ZALENDE/EiJ.