Rp1^tm2.1Eap
Targeted Allele Detail

Summary

• Symbol: Rp1^tm2.1Eap
• Name: retinitis pigmentosa 1 (human); targeted mutation 2.1, Eric A Pierce
• MGI ID: MGI:5463924
• Synonyms: Rp1^Q662X
• Gene: Rp1 Location: Chr1:4185896-4479508 bp, - strand Genetic Position: Chr1, 1.65 cM
• Alliance: Rp1^tm2.1Eap page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:191685
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: An FRT flanked neomycin selection cassette along with a 5' loxP site was inserted in intron 3. In addition, a mutation was inserted in codon 662 in exon 4 resulting in the substitution of a stop codon for one encoding glutamine (Q662X). Correctly targeted mice were crossed to flp deleter mice to excise the selection cassette. A 74 kD protein was produced rather than the 240 kD wild-type protein. (J:191685)

Expression

In Structures Affected by this Mutation:

4 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:191685 Liu Q, et al., Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. PLoS One. 2012;7(8):e43251
• All: 2 reference(s)