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Ptpn6me-v
Spontaneous Allele Detail
Nomenclature
Symbol: Ptpn6me-v
Name: protein tyrosine phosphatase, non-receptor type 6; viable motheaten
MGI ID: MGI:1856074
Synonyms: Hcphme-v, mev, mev, motheaten viable, Ptpn6mev
Gene: Ptpn6  Location: Chr6:124720707-124738714 bp, - strand  Genetic Position: Chr6, 59.17 cM
Phenotype of the Ptpn6me-v/Ptpn6me-v mouse

Show the 1 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation details
Inheritance:    Recessive
Phenotypes
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ptpn6 Mutation:  12 strains or lines available
Notes

Large numbers of atypical plasma cells called "Mott" cells occur in lymphoid tissues of homozygous mutants. These cells contain inclusions called "Russell bodies" that consist of crystallized immunoglobulin (J:14936). Hcphme-v/Hcphme-v mutant prothymocytes fail to populate the thymus of irradiated hosts. Mutant prothymocytes seed the irradiated thymus but do not proliferate or differentiate, due to a defect in activity of intrathymic accessory cells derived from bone marrow (J:16613).

Like the autoimmune lymphoproliferation (Faslpr) and generalized lymphadenopathy disease (Faslgld) mutations, Hcphme-v displays a decreased response to T-cell mitogens. Exogenous recombinant interleukin 2 added to splenic cultures from Faslpr and Faslgld mice restored T cell proliferation in response to mitogens; interleukin 2 was not able to restore proliferation response in Hcphme-v cultures (J:1661).

Expression of stefin A, a cysteine protease inhibitor, increases in bone marrow, spleen, and pulmonary tissue of motheaten and viable motheaten mice, along with increased levels of the myelomonocytic cells that produce the stefins (J:20878).

References
Original:  J:7531 Shultz LD, et al., Viable motheaten, a new allele at the motheaten locus. I. Pathology. Am J Pathol. 1984 Aug;116(2):179-92
All:  98 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory