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Allele : Drd2<em1Knev> dopamine receptor D2; endonuclease-mediated mutation 1, Kim Neve

Primary Identifier  MGI:7571457 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Drd2
Strain of Origin  C57BL/6NJ Is Recombinase  false
Is Wild Type  false
molecularNote  Guide RNA [GACCCGCUUCCGACGCUUG] is used to insert an isoleucine to phenylalanine substitution at position 212 (c.634 A to T) in exon 5. Drd2 transcript Drd2-201 (ENSMUST00000075764.8) was utilized as reference for the exon number and guide sequences. In humans, the I212F mutation is associated with progressive chorea and cervical dystonia.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Drd2<I212F>,
  • Drd2<I212F>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele