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Tg(RHO*P347S)A1Tili
Transgene Detail
Nomenclature
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  
Transgene
origin
Strain of Origin:  FVB/N
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory