Fas<lpr> Spontaneous Allele Detail MGI Mouse (MGI:1856334)

Fas^lpr
Spontaneous Allele Detail

Summary

Symbol:	Fas^lpr
Name:	Fas cell surface death receptor; lymphoproliferation
MGI ID:	MGI:1856334
Synonyms:	Fas-, Fas-def, lpr, MRL/lpr, Tnfrf6^lpr, Tnfrsf6^lpr, Tnfrsf6lpr
Gene:	Fas Location: Chr19:34268066-34305172 bp, + strand Genetic Position: Chr19, 29.48 cM
Alliance:	Fas^lpr page

control and Fas^lpr/Fas^lpr

Show the 1 phenotype image(s) involving this allele.

Mutation
origin

Strain of Origin:

MRL/Mp

Mutation
description

Allele Type:		Spontaneous (Hypomorph)
Mutation:		Transposon insertion
		Mutation details: 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. (J:1181, J:4166, J:4342, J:14206, J:14503, J:15429)
Inheritance:		Recessive

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	27 assay results 5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	37 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 39 strains available Cell Lines: 0 lines available
Carrying any Fas Mutation:	82 strains or lines available

Notes

Fas^lpr, lymphoproliferation, recessive. 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 Fas^lpr 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 Cd72^c haplotype is a modifier of Fas^lpr-induced autoimmune disease. J:204782

References

Original:	J:28885 Murphy ED, et al., Autoimmunity and lymphoproliferation: Induction by mutant gene lpr, and acceleration by a male-associated factor in strain BXSB mice, in Genetic Control of Autoimmune Disease. 1978:207-20.
All:	1026 reference(s)

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