Ptpn6^me-v
Spontaneous Allele Detail

Summary

• Symbol: Ptpn6^me-v
• Name: protein tyrosine phosphatase, non-receptor type 6; viable motheaten
• MGI ID: MGI:1856074
• Synonyms: Hcph^me-v, mev, me^v, motheaten viable, Ptpn^6mev
• Gene: Ptpn6 Location: Chr6:124697670-124715672 bp, - strand Genetic Position: Chr6, 59.17 cM
• Alliance: Ptpn6^me-v page

Phenotype of the Ptpn6^me-v/Ptpn6^me-v mouse

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A T-to-A transversion point mutation on the coding negative strand (g.chr6:124727383A>T on build GRCm38) at a splice consensus site (G-GT>G-GA) 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, coding for 23 amino acids, in the transcript. (J:11892, J:42157)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ptpn6^me-v

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Ptpn6 Mutation: 47 strains or lines available

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: 109 reference(s)