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Allele : Prph2<tm4.1Itl> peripherin 2; targeted mutation 4.1, inGenious Targeting Laboratory

Primary Identifier  MGI:6492300 Allele Type  Targeted
Attribute String  Not Specified Gene  Prph2
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A G to A point mutation was introduced in exon 2 to create a cysteine to tyrosine substitution at residue 213 (p.C213Y) in the encoded protein. In addition a loxP/FRT flanked neomycin cassette was inserted 882 bp 3' to a second silent mutation (G to A) in exon 2 to introduce a restriction site for genotyping. Flp-mediated recombination removed the Neo cassette. Levels of mutant transcript in homozygotes are similar to wild-type levels, however retinas have only approximately 10% of wild-type levels of protein.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Prph2<C>,
  • C213Y,
  • C213Y,
  • Prph2<C>
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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

6 Publication categories

Trail: Allele