About   Help   FAQ
Spontaneous Allele Detail
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 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
Mutation detailsA T-to-A transversion point mutation at a splice consensus site results in the use of two other cryptic sites. One site would result in five amino acids being deleted from the encoded protein and the other would include 69bp of intronic sequence in the transcript. (J:11892)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
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

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).

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:  100 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 5.21
The Jackson Laboratory