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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvHsd
Not Applicable
Nucleotide substitutions
Codominant
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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