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Allele : Tg(RHO*P347S)A1Tili transgene insertion A1, Tiansen Li

Primary Identifier  MGI:6187993 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(RHO*P347S)A1Tili
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  This transgene comprises a 1.3-kb human genomic DNA fragment cloned from a patient with an autosomal dominant form of retinitis pigmentosa. The insert contains the human rhodopsin gene with a mutation resulting in substitution of serine for proline at amino acid position 347 (P347S) with 3.4 kb of upstream and 4.8 kb of downstream flanking DNA. Densitometric analysis of transgene-derived human and endogenous mouse retinal rhodopsin mRNA-derived bands on autoradiographs of polyacrylamide gel-separated [alpha-32P]-dCTP-labeled RT-PCR products revealed human:mouse transcript ratios in retinas of five transgenic mouse lines to be: line C1, 0.25:1; lines A1 and C2, 1:1; lines A2 and E, 5:1.
  • mutations:
  • Insertion
  • synonyms:
  • P347S,
  • RHOP347S,
  • RHOP347S,
  • P347S
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

9 Publication categories

Trail: Allele