129X1/SvJ

Stock number: 000691
Product name: 129X1
Research areas: Cancer Research, Neurobiology Research, Reproductive Biology Research, Research Tools, Sensorineural Research

Description

129 inbred mice are characterized by a high incidence of spontaneous testicular teratomas, though the incidence differs between substrains. 129/SvJ mice, as well as mice from other 129 sublines, are widely used in the production of targeted mutations due to the availability of multiple embryonic stem cell lines derived from them. Major genetic variation exists between various sublines of the 129 "family".

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 response to challenge, 129X1/SvJ mice develop immune-mediated nephritis characterized by proteinuria, glomerulonephritis and tubulointerstitial disease (Xie et al. 2004).

White et al. reported a variation in thioglycolate medium-induced peritoneal leukocyte recruitment in 4 analyzed strains. The response of total leukocyte recruitment, from greatest to least, was C57BL/6J>BALB/c>CD1>129X1/SvJ. Variations were also found in the timeline of response and cell types most impacted.

Development

129X1/SvJ mice were transferred from the laboratory of Dr. Roy Stevens (Sv) at The Jackson Laboratory to the production colonies in 1982. Historical data and genetic analysis indicate that an accidental outcrossing of 129X1/Sv occurred prior to that transfer, sometime between 1977 and 1978, resulting in a change in coat color from Aw to a (white-bellied agouti to nonagouti) in the 129/Sv substrain.

Allele

Symbol: Disc1^del
Name: deletion
MGI accession ID: MGI:3623217
Generation method: Spontaneous
Synonyms: Disc1^129S6; Disc1^delta6
Marker symbol: Disc1
Marker name: disrupted in schizophrenia 1
Marker synonyms: C1orf136; SCZD9
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: Cdh23^ahl
Name: age related hearing loss 1
MGI accession ID: MGI:3028349
Generation method: Spontaneous
Synonyms: Cdh23^753A; mdfw
Marker symbol: Cdh23
Marker name: cadherin 23 (otocadherin)
Marker synonyms: 4930542A03Rik; ahl; bob; CDHR23; mdfw; nmf112; nmf181; nmf252; PITA5; sals; USH1D
Chromosome: 10
Strain of origin: multiple strains
Molecular note: Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G-to-A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870) at the 3' end of exon 7 (in ENSMUST00000073242). This hypomorphic allele changes splice donor site G-GT to A-GT, causing skipping of out-of-frame exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains in the encoded peptide and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Allele

Symbol: Poli^d
Name: polymerase iota deficient
MGI accession ID: MGI:3055735
Generation method: Spontaneous
Attributes: Null/Knockout
Synonyms: Poli^-; Poli¹²⁹
Marker symbol: Poli
Marker name: polymerase (DNA directed), iota
Marker synonyms: eta2; RAD30B; RAD3OB
Chromosome: 18
Strain of origin: 129
Molecular note: A C-to-A nonsense mutation changes codon 27 from serine (TCG) to an amber stop codon (TAG) (SW:Q6R3M4 p.S27*), and results in a truncated protein lacking any catalytic function. The allele was present in every 129 strain analyzed, including 129P3/J, 129X1/SvJ, 129P1/ReJ and 129P2/Ola. C57BL/6J and BALB/c mice did not contain the mutation.

Allele

Symbol: Astn2^ridge
Name: ridge
MGI accession ID: MGI:6093704
Generation method: Spontaneous
Attributes: Null/Knockout
Synonyms: ridge
Marker symbol: Astn2
Marker name: astrotactin 2
Marker synonyms: 1d8; Astnl; bA67K19.1
Chromosome: 4
Strain of origin: 129X1/SvJ
Molecular note: The molecular lesion is a a ~30 kb deletion that encompasses exon 5 and has endpoints within a pair of LINE elements. PCR typing showed that the ~30 kb deletion is present in both R1 ES cells and in 129X1/SvJ mice, but not in the closely related 129S1/SvlmJ or 129S6/SvEvTac strains.