Primary Identifier | MGI:1856073 | Allele Type | Spontaneous |
Gene | Ptpn6 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
description | Genbank ID for this mutation: S63764 |
molecularNote | 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. |