B6Smn.C3-Fasl^gld/J

Stock number: 001021
Product name: Fasl gld
Research areas: Apoptosis Research, Cancer Research, Cell Biology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs

Description

Mice homozygous for the Fasl^gld mutation display lymphadenopathy and systemic autoimmunity similar to that in Fasl^lpr homozygous mice. Homozygotes also have an enlarged spleen, greatly increased numbers of T, B, and null lymphocytes and develop immune complex glomerulonephrosis.

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.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

The Cryaa^lop18 mutation was identified in the C57BL/6JSmn inbred strain in approximately 1991. This is at least 5 years from the date of the final (N10) backcross generation of B6Smn.C3-Fasl^gld/J. In 2003, four B6Smn.C3-Fasl^gld/J mice were assessed and the recessive lop18 phenotype was absent from all of them. This does not guarantee that the Cryaa^lop18 mutation is absent from this strain.

 

Development

The original Fasl^gld mutation arose spontaneously at JAX in C3H/HeJ. Formerly known as gld, after cloning the gene symbol became Fasl^gld. In this strain, 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. B6Smn.C3H-Fasl^gld is a congenic mouse strain developed for this mutation.

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.