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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cx1  Disease Model	Ntrk3^tm1.1Tes/Ntrk3^+ Tg(RHO*P347S)A1Tili/0	involves: 129S1/Sv * C57BL/6J * FVB/N
cx2	Ntrk3^tm1.1Tes/Ntrk3^tm1.1Tes Tg(RHO*P347S)A1Tili/0	involves: 129S1/Sv * C57BL/6J * FVB/N
cx3  Disease Model	Rho^tm1Jlem/Rho^tm1Jlem Tg(RHO*P347S)A1Tili/0	involves: 129S4/SvJae * FVB/N
tg4  Disease Model	Tg(RHO*P347S)A1Tili/0	involves: C57BL/6J * FVB/N

Phenotypes:

Affected Systems	cx1	cx2	cx3	tg4
show or hide all annotated terms
growth/size/body		√
decreased body weight		√
nervous system			√
short photoreceptor outer segment			√
reproductive system		√
decreased litter size		√
vision/eye	√	√	√	√
abnormal eye morphology		√
short photoreceptor outer segment			√
microphthalmia		√
thin retina outer nuclear layer	√			√
retina outer nuclear layer degeneration			√
retina degeneration			√
abnormal a-wave shape			√
absent b-wave			√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx1	cx3	tg4
retinitis pigmentosa 4 IDs retinitis pigmentosa 4       DOID:0110372 ICD10CM:H35.5 MESH:C566706 OMIM:613731 Close	√	√	√

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)