Tg(RHO*P347S)A1Tili
Transgene Detail

Summary

• Symbol: Tg(RHO*P347S)A1Tili
• Name: transgene insertion A1, Tiansen Li
• MGI ID: MGI:6187993
• Synonyms: P347S, RHOP347S
• Transgene: Tg(RHO*P347S)A1Tili Location: unknown
• Alliance: Tg(RHO*P347S)A1Tili page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(RHO*P347S)A1Tili expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  RHO (6010)

  Rho	(MGI:97914)

  Expresses human rhodopsin with a mutation resulting in substitution of serine for proline at amino acid position 347 (P347S)

• Mutation details: 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. (J:133695)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

References

• Original: J:133695 Li T, et al., Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14176-81
• All: 7 reference(s)