Tg(RHO*P347S)A1Tili
Transgene Detail
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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
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Alliance: |
Tg(RHO*P347S)A1Tili page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(RHO*P347S)A1Tili expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
RHO (6010) |
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Expresses human rhodopsin with a mutation resulting in substitution of serine for proline at amino acid position 347 (P347S) |
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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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) |
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