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Allele : Pcdh15<em1Zma> protocadherin 15; endonuclease-mediated mutation 1, Zubair M Ahmed

Primary Identifier  MGI:7564294 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Null/knockout Gene  Pcdh15
Is Recombinase  false Is Wild Type  false
molecularNote  Arginine codon 250 (CGA) in exon 9 was changed to a stop codon (TGA) (p.R250*) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R245* mutation associated with Usher syndrome type I (USH1). Immunohistochemistry experiments indicate absence of protein expression in retinal and cochlear tissues.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pcdh15<R250X>,
  • Pcdh15<R250X>
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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