Ptpn6^me
Spontaneous Allele Detail

Summary

• Symbol: Ptpn6^me
• Name: protein tyrosine phosphatase, non-receptor type 6; motheaten
• MGI ID: MGI:1856073
• Synonyms: me, SHP-1 deficient
• Gene: Ptpn6 Location: Chr6:124697670-124715672 bp, - strand Genetic Position: Chr6, 59.17 cM
• Alliance: Ptpn6^me page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:11892, J:60297)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

14 anatomical structure(s)

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: 47 strains or lines available

Notes

Genbank ID for this mutation: S63764

References

• Original: J:5579 Green MC, et al., Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology. J Hered. 1975 Sep-Oct;66(5):250-8
• All: 61 reference(s)