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Allele : Nhlrc2<em1Rhtl> NHL repeat containing 2; endonuclease-mediated mutation 1, Reetta Hinttala

Primary Identifier  MGI:6510804 Allele Type  Endonuclease-mediated
Gene  Nhlrc2 Strain of Origin  C57BL/6NCrl
Is Recombinase  false Is Wild Type  false
molecularNote  A G-to-T mutation was engineered using crRNA, tracrRNA and an ssODN template with CRISPR/Cas9 technology. The c.442G>T mutation changes aspartic acid codon 148 to a tyrosine codon (p.Asp148Tyr), mimicking a mutation found in FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome patients.
  • mutations:
  • Single point mutation
  • synonyms:
  • Nhlrc2<em1Rthl>,
  • Nhlrc2<FINCA>,
  • Nhlrc2<em1Rthl>,
  • Nhlrc2<FINCA>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories