Primary Identifier | MGI:7525371 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Pten |
Transmission | Germline | Strain of Origin | Not Specified |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A T to C change at position 202 (c.202T>C) resulting in a tyrosine to histidine substitution at amino acid 68 (p.Y68H) was introduced in exon 3. This is a mutation seen in PTEN Hamartoma Tumor Syndrome (PHTS) individuals diagnosed with autism spectrum disorder. |