Cep250^tm1Jzb
Targeted Allele Detail

Summary

• Symbol: Cep250^tm1Jzb
• Name: centrosomal protein 250; targeted mutation 1, Zi-Bing Jin
• MGI ID: MGI:6356300
• Synonyms: Cep250-knockin
• Gene: Cep250 Location: Chr2:155798378-155840820 bp, + strand Genetic Position: Chr2, 77.26 cM
• Alliance: Cep250^tm1Jzb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:276510
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Modified isoform(s), Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: The p.R187* (CGA to TGA) mutation was introduced into exon 6. A loxP-flanked neomycin selection cassette was removed via cre-mediated recombination. The R187* nonsense mutation corresponds to the R188* mutation identified in a human nonsyndromic retinitis pigmentosa (RP) patient. (J:276510)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Cep250 Mutation: 98 strains or lines available

References

• Original: J:276510 Huang XF, et al., Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Hum Mutat. 2019 Apr 18
• All: 2 reference(s)