Primary Identifier | MGI:5639081 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Ptpn11 |
Transmission | Germline | Strain of Origin | 129S2/SvPas |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A point mutation (ACC>ATG) was introduced by site-directed mutagenesis into exon 12 at position 4847 resulting in the amino acid substitution of methionine for threonine (T468M) and a floxed neomycin cassette was inserted within the following intron. Cre-mediated recombination removed the neomycin cassette. The amino acid substitution is a common mutation in Leopard syndrome. |