BALB/cJ-Pld4^thss/GrsrJ

Stock number: 012624
Product name: thin hair with small size
Research areas: Dermatology Research

Description

This spontaneous mutation provides a model for systemic lupus erythematosus, with females developing significant splenomegaly, lymphadenopathy, autoantibodies, including anti-nuclear antibodies and anti-dsDNA antibodies, and deposits in the kidney glomeruli. The T cells display an activated CD69+ phenotype, there are increased numbers of germinal center B cells and plasma cells, and the peripheral B cells are significantly expanded with high levels of secreted TNFSF13B.

Detailed description

This spontaneous point mutation is predicted to cause a premature stop codon at residue 46 of the 503 amino acid PLD4 protein. Male and female homozygotes are smaller than normal by 1 week of age and this worsens with age, with some homozygotes becoming hunched, but both males and females are reported to be fertile. The coat comes in sparse and fails to fill in even in the adult. PLD4 is a susceptibility locus for rheumatoid arthritis and systemic lupus erythematosus. Homozygous females have been reported to provide a model for systemic lupus erythematosus, with females developing significant splenomegaly, lymphadenopathy, autoantibodies, including anti-nuclear antibodies and anti-dsDNA antibodies, and deposits in the kidney glomeruli. The T cells display an activated CD69+ phenotype, there are increased numbers of germinal center B cells and plasma cells, and the peripheral B cells are significantly expanded with high levels of secreted TNFSF13B.

Development

The thss mutation arose spontaneously in 1999 on the coisogenic strain BALB/cJ-Cst6^ichq/J at The Jackson Laboratory. This mutant subline was maintained by sibling inbreeding and no ichthiosis mutants were seen in 29 generations. Sperm was cryopreserved from homozygous males at generation F29.

Allele

Symbol: Pld4^thss
Name: thin hair with small size
MGI accession ID: MGI:4431064
Generation method: Spontaneous
Marker symbol: Pld4
Marker name: phospholipase D family, member 4
Marker synonyms: C14orf175; thss
Chromosome: 12
Strain of origin: BALB/cJ-Cst6^ichq/J
Molecular note: This spontaneous mutation is a G-to-T transition at position 112,763,421 (GRCm38) resulting in a premature stop codon at glycine residue 46 (p.G46*).