Pten^tm2Engc
Targeted Allele Detail

Summary

• Symbol: Pten^tm2Engc
• Name: phosphatase and tensin homolog; targeted mutation 2, Charis Eng
• MGI ID: MGI:7525371
• Synonyms: Pten^Y68H
• Gene: Pten Location: Chr19:32734977-32803560 bp, + strand Genetic Position: Chr19, 28.14 cM
• Alliance: Pten^tm2Engc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:339931
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:339931)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pten Mutation: 86 strains or lines available

References

• Original: J:339931 Sarn N, et al., Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity. Mol Autism. 2021 Jun 4;12(1):41
• All: 1 reference(s)