About   Help   FAQ
Rp1tm1Jnz
Targeted Allele Detail
Summary
Symbol: Rp1tm1Jnz
Name: retinitis pigmentosa 1 (human); targeted mutation 1, Jian Zuo
MGI ID: MGI:2179129
Synonyms: Rp1-
Gene: Rp1  Location: Chr1:4185896-4479508 bp, - strand  Genetic Position: Chr1, 1.65 cM
Alliance: Rp1tm1Jnz page
Progressive degeneration of photoreceptors of Rp1tm1Jnz/Rp1tm1Jnz mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76071
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 2 and 3 were replaced with a neomycin resistance gene via homologous recombination thus deleting the translation initiation codon and Dcx functional domain. Mutant transcript was detected in retina of homozygous mutant animals. Western blot analysis and immunofluorescent staining was negative for wild-type protein, but a faint signal from a truncated protein was detected. The truncated protein is thought to originate from alternative translation initiation sites in exon 4. (J:76071)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Mice Carrying this Mutation: 6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 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
Carrying any Rp1 Mutation:  121 strains or lines available
References
Original:  J:76071 Gao J, et al., Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/01/2024
MGI 6.24
The Jackson Laboratory