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.Read More +
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.
The thss mutation arose spontaneously in 1999 on the coisogenic strain BALB/cJ-Cst6ichq/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 Name||thin hair with small size|
|Allele Synonym(s)||thin hair with small size; Pld4thss|
|Gene Symbol and Name||Pld4, phospholipase D family, member 4|
|Gene Synonym(s)||C14orf175; thss; thss; AI132321; expressed sequence AI132321; thin hair with small size|
|Strain of Origin||BALB/cJ-Cst6ichq/J|
|Molecular Note||This spontaneous mutation is a G to T transition at position 114,001,632 (NCBI Build 37) resulting in a premature stop codon at residue 46.|
|Heterozygous for thss|
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