Fas^lpr-cg
Spontaneous Allele Detail

Summary

• Symbol: Fas^lpr-cg
• Name: Fas cell surface death receptor; lymphoproliferation complementing gld
• MGI ID: MGI:1856335
• Synonyms: lpr^cg
• Gene: Fas Location: Chr19:34268066-34305172 bp, + strand Genetic Position: Chr19, 29.48 cM
• Alliance: Fas^lpr-cg page

Mutation origin

• Strain of Origin: CBA/KlJms

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A T-to-A transversion point mutation at coding nucleotide 737 results in replacement of a highly conserved isoleucine by asparagine at position 246 (p.I246N) in the cytoplasmic region of the encoded protein. (J:1181)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Fas Mutation: 82 strains or lines available

Notes

This mutation, which produces massive lymphadenopathy in homozygotes, occurred spontaneously in a subline of the inbred strain CBA/KlJms maintained at the Institute of Medical Science in Tokyo. Fas^lpr-cg complemented both Fas^lpr and the generalized lymphoproliferative disease Fasl^gld mutation in that double heterozygotes with either mutation had lymphadenopathy. However, further crosses showed the new mutation to be an allele at Fas^lpr (J:24805). Like Fas^lpr and Fasl^gld mutant homozygotes, CBA-Fas^lpr-cg/Fas^lpr-cg mutants produce antibodies to some nuclear antigens, such as dsDNA, ssDNA, and poly(ADP-ribose); however, they do not produce anti-erythrocyte antibodies. Although they exhibit lymphoid cell infiltration around blood vessels in lung, liver, and kidney, they lack the immune-complex glomerulonephritis, vasculitis, and interstitial pneumonia characteristic of Fas^lpr homozygotes (J:616). Fas^lpr-cg homozygotes on the MRL genetic background developed glomerulonephritic lesions similar to those of MRL/MpJ-Fas^lpr mutants, although at a lower frequency, suggesting MRL/MpJ background genes control this aspect of the disease (J:1753). Studies of Fas^lpr and Fas^lpr-cg homozygotes in athymic nude (Hfh11^nu/Hfh11^nu) mice show that the thymus is critical for lymphadenopathy and autoimmunity (J:582).

References

• Original: J:24805 Matsuzawa A, et al., A new allele of the lpr locus, lprcg, that complements the gld gene in induction of lymphadenopathy in the mouse. J Exp Med. 1990 Feb 1;171(2):519-31
• All: 25 reference(s)