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Allele : Reep6<em1Ruch> receptor accessory protein 6; endonuclease-mediated mutation 1, Rui Chen

Primary Identifier  MGI:6118044 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Reep6
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR-Cas9 mediated mutagenesis created a T to C missense mutation at position 404 (c404T>C) in exon 4 resulting in a proline substitution for leucine at amino acid 135 (pLeu135Pro) that has been identified in patients with Retinitis Pigmentosa. Western blot analysis indicates that protein levels in the retina are similar to that in wild-type mice.
  • mutations:
  • Single point mutation
  • synonyms:
  • Reep6<L135P>,
  • Reep6<L135P>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories