C3H/HeJ-Fasl^gld/J

Stock number: 000784
Product name: generalized lymphoproliferative disease
Research areas: Apoptosis Research, Cancer Research, Cell Biology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs

Description

These mice carry a spontaneous mutation at the Fasl locus characterized by lymphadenopathy and systemic autoimmunity.

Detailed description

Mice homozygous for the Fasl^gld mutation display lymphadenopathy and systemic autoimmunity similar to that in Fasl^lpr homozygous mice. There is significant enlargement of all lymph nodes to 50 times the control weight by 20 weeks of age. Homozygotes also have an enlarged spleen, greatly increased numbers of T, B, and null lymphocytes and develop immune complex glomerulonephrosis. Onset of symptoms is dependent on genetic background with the C3H/HeJ strain having the earliest onset exhibiting glomerulonephritis by 22 weeks.

Allele

Symbol: Fasl^gld
Name: generalized lymphoproliferative disease
MGI accession ID: MGI:1856384
Generation method: Spontaneous
Marker symbol: Fasl
Marker name: Fas ligand (TNF superfamily, member 6)
Chromosome: 1
Strain of origin: C3H/HeJ
Molecular note: A T-to-C transition point mutation near the 3' end of the coding sequence causes a replacement of a highly conserved phenylalanine with a leucine at position 273 (p.F273L) in the extracellular region of the encoded protein.