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Allele : Rp1<tm1Jnz> retinitis pigmentosa 1 (human); targeted mutation 1, Jian Zuo

Primary Identifier  MGI:2179129 Allele Type  Targeted
Gene  Rp1 Transmission  Germline
Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2> Is Recombinase  false
Is Wild Type  false
molecularNote  Exons 2 and 3 were replaced with a neomycin resistance gene via homologous recombination thus deleting the translation initiation codon and Dcx functional domain. Mutant transcript was detected in retina of homozygous mutant animals. Western blot analysis and immunofluorescent staining was negative for wild-type protein, but a faint signal from a truncated protein was detected. The truncated protein is thought to originate from alternative translation initiation sites in exon 4.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Rp1-,
  • Rp1-
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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

9 Publication categories