Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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.

Germline Transmission:	Earliest citation of germline transmission: J:76071
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Not Applicable) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 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)

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

In Mice Carrying this Mutation:	6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

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

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)