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

Symbol:	CtseC57BL/6JOlaHsd
Name:	cathepsin E; C57BL/6JOlaHsd variant
MGI ID:	MGI:5435251
Gene:	Ctse  Location: Chr1:131566052-131603245 bp, + strand  Genetic Position: Chr1, 57.14 cM, cytoband F
Alliance:	CtseC57BL/6JOlaHsd page

Strain of Origin:

C57BL/6JOlaHsd

Allele Type:    Spontaneous Mutation:    Nucleotide substitutions   Mutation details: This variant confers at least 8-fold lower 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 129S/SvHsd variant. Flow cytometry combining cell-surface markers with intracellular detection of CTSE demonstrates >80% lower CTSE Median Fluorescent Intensity (MFI) in B and T lymphocytes, macrophages and dendritic cells from spleens or peripheral blood of C57BL/6JOlaHsd than of 129S/SvHsd mice. High and low expression levels segregate with homozygosity for the 129S/SvHsd and for the C57BL/6JOlaHsd 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. The reported sequence of the Ctse promoter region in C57BL/6J (NCBI Ref. Seq. NT_078297.7) differs from those of both BALB/cOlaHsd (J:128538) and 129X1/SvJ (GenBank: Y10928.1) by a G-to-A transition 64 nucleotides (nt) from the start of transcription that abrogates a reportedly functional SFPI1 (PU.1) transcription factor binding site (GAGGAA --> GAGGAG); the C57BL/6J promoter sequence shares with BALB/cOlaHsd a G-to-A transition 30 nt from the transcription start site that disrupts a putative ETV4 (PEA3) consensus binding sequence. (J:128538) Inheritance:    Codominant

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 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)