Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Ctse129S/SvHsd
Name:	cathepsin E; 129S/SvHsd variant
MGI ID:	MGI:5435247
Gene:	Ctse  Location: Chr1:131566052-131603245 bp, + strand  Genetic Position: Chr1, 57.14 cM, cytoband F
Alliance:	Ctse129S/SvHsd page

Strain of Origin:

129S/SvHsd

Allele Type:    Not Applicable Mutation:    Nucleotide substitutions   Mutation details: This variant confers at least 8-fold greater expression of cathepsin E mRNA in spleen and of CTSE protein in spleen-derived leukocytes, as determined by semiquantitative PCR and immunoblot analysis, respectively, than does the C57BL/6JOlaHsd variant. Flow cytometry combining cell-surface markers with intracellular detection of CTSE demonstrates >80% higher CTSE Median Fluorescent Intensity (MFI) in B and T lymphocytes, macrophages and dendritic cells from spleens of 129S/SvHsd than of C57BL/6JOlaHsd mice. High and low expression levels segregate with homozygosity for the 129S/SvHsd and for the C57BL/6JOlsHsd Ctse variant (genotyped based on an SspI RFLP due to a SNP in intron 5), respectively, in F2 progeny of intercrosses between these two strains. (J:128538) Inheritance:    Codominant

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ctse Mutation:	29 strains or lines available

Original:	J:128538 Tulone C, et al., Natural cathepsin E deficiency in the immune system of C57BL/6J mice. Immunogenetics. 2007 Dec;59(12):927-35
All:	1 reference(s)