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Strain
MRL/MpJ-Faslpr/J

Summary Data Summary
Official Name MRL/MpJ-Faslpr/J
Common Name MRL/MpJ
Description This mutation was found during inbreeding of a strain MRL/Mp
derived from crosses among strains LG, AKR, C3H, and
C57BL/6. The resemblance has led to extensive use of Faslpr
mice in attempts to determine the etiology of SLE and to
evaluate therapies. However, the human APT1 gene (OMIM
134637) encodes the FAS antigen; Tnfrsf6 is not the homolog
of the human (SLE) gene.The Cd72c haplotype is a modifier of
Faslpr-induced autoimmune disease. J:204782

Southern blotting experiments indicated that the mutation is
a genomic rearrangement within the gene, probably within the
second intron. Sequencing of genomic DNA and RT-PCR products
from homozygous mutant mice revealed the insertion of an
early transposable element (ETn) into intron 2. RT-PCR
analysis of liver and thymus mRNA showed that the presence
of the ETn leads to premature termination of transcription
at the long terminal repeat (LTR) of the ETn and aberrant
mRNA splicing. The mutation is "leaky," however, as
full-length mRNA and a longer splice product incorporating a
segment of the ETn as an extra intron are detected in the
thymus at low levels.
Development Status Phenotyping ongoing
Creation Method spontaneous
Phenotype Description Sjogren's syndrome
TypeCount
Genomics - Modifications 1
Experiments 3
External References 1


Genomic Information
GeneAllele 1Allele 2Protocol
Fasnucleotide insertionnucleotide insertionNot Specified




External References
NameLink to Reference
Mouse Phenome Database: StrainsClick to view

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