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Targeted Allele Detail
Symbol: Rp1tm1Jnz
Name: retinitis pigmentosa 1 (human); targeted mutation 1, Jian Zuo
MGI ID: MGI:2179129
Synonyms: Rp1-
Gene: Rp1  Location: Chr1:4290846-4409241 bp, - strand  Genetic Position: Chr1, 1.65 cM
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-Hprtb-m2
Allele Type:    Targeted
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)
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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
Carrying any Rp1 Mutation:  0 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:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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