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Allele : Pten<tm2Engc> phosphatase and tensin homolog; targeted mutation 2, Charis Eng

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pten<Y68H>,
  • Pten<Y68H>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele