| Primary Identifier | MGI:1856335 | Allele Type | Spontaneous |
| Gene | Fas | Inheritance Mode | Recessive |
| Strain of Origin | CBA/KlJms | Is Recombinase | false |
| Is Wild Type | false |
| description | 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. Faslpr-cg complemented both Faslpr and the generalized lymphoproliferative disease Faslgld mutation in that double heterozygotes with either mutation had lymphadenopathy. However, further crosses showed the new mutation to be an allele at Faslpr (J:24805). Like Faslpr and Faslgld mutant homozygotes, CBA-Faslpr-cg/Faslpr-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 Faslpr homozygotes (J:616). Faslpr-cg homozygotes on the MRL genetic background developed glomerulonephritic lesions similar to those of MRL/MpJ-Faslpr mutants, although at a lower frequency, suggesting MRL/MpJ background genes control this aspect of the disease (J:1753). Studies of Faslpr and Faslpr-cg homozygotes in athymic nude (Hfh11nu/Hfh11nu) mice show that the thymus is critical for lymphadenopathy and autoimmunity (J:582). |
| molecularNote | 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. |
