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Allele : Tpcn2<em1Lwbch> two pore segment channel 2; endonuclease-mediated mutation 1, Wei Li

Primary Identifier  MGI:7450918 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tpcn2
Inheritance Mode  Dominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  Arginine codon 194 (CGG) in exon 6 was changed to cysteine (TGC) (p.R194C) using an sgRNA (targeting AGAAGACCCTGAAGTGTATACGG) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.R210C mutation found in an albinism patient.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Tpcn2 R194C knock-in,
  • Tpcn2 R194C knock-in
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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

3 Publication categories

Trail: Allele