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Allele : Prph2<tm1Nmc> peripherin 2; targeted mutation 1, Niamh McNally

Primary Identifier  MGI:2182621 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Prph2
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A 1 bp deletion found in an autosomal dominant form of human retinitis pigmentosa was introduced into codon 307 of the mouse gene in conjunction with a loxP-neo cassette situated in the 3' untranslated region (500 bp from the 307 mutation) via homologous recombination. Homozygous mutant animals were identified by PCR genotyping and Southern blot analysis and the presence of the codon 307 mutation was verified by RT-PCR of cDNA from retinas of homozygous mutant animals.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • rds-307,
  • Prph2<delta307>,
  • rds-307,
  • Prph2<delta307>
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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

8 Publication categories

Trail: Allele