C57BL/6J-Ptpn6^me/SzJ

Stock number: 010825
Research areas: Apoptosis Research, Dermatology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research

Description

Mice homozygous for the motheaten spontaneous mutation (Ptpn6^me) develop severe autoimmune disease. Characteristics include granulocytic skin lesions, pneumonitis, impaired humoral and cell-mediated immune responses, decreased responses to T cell and B cell mitogens, deficient cytotoxic T cell and NK cell activity, as well as osteoporosis.

Detailed description

Mice homozygous for the motheaten spontaneous mutation (Ptpn6^me) develop severe autoimmune disease. Characteristics include granulocytic skin lesions, pneumonitis, impaired humoral and cell-mediated immune responses, decreased responses to T cell and B cell mitogens and deficient cytotoxic T cell and NK cell activity. B cells are LY-1+. Homozygous mutant mice also exhibit hyperimmunoglobulinemia, and express multiple autoantibodies. Macrophages show increased proliferative capacity. In addition to defects in the immune system, motheaten mice show classic symptoms of osteoporosis due to an increased number and activity of osteoclasts in the bone marrow. The lifespan of homozygous motheaten mice is approximately 3 weeks with death attributed to an autoimmune pneumonitis.

Development

The motheaten spontaneous mutation arose in C57BL/6J in 1965 in the Production Colony of The Jackson Laboratory.

Allele

Symbol: Ptpn6^me
Name: motheaten
MGI accession ID: MGI:1856073
Generation method: Spontaneous
Marker symbol: Ptpn6
Marker name: protein tyrosine phosphatase, non-receptor type 6
Chromosome: 6
Strain of origin: C57BL/6J
Molecular note: A single nucleotide (C) deletion at coding nucleotide position 228 (g.chr6:124732398Gdel on build GRCm38) creates a cryptic splice site. This results in the deletion of a 101bp segment in the encoded transcript, and a frameshift in the encoded protein.
General note:

Genbank ID for this mutation: S63764