Bbs2^tm1.1Huss
Targeted Allele Detail

Summary

• Symbol: Bbs2^tm1.1Huss
• Name: Bardet-Biedl syndrome 2; targeted mutation 1.1, Herve Husson
• MGI ID: MGI:6471956
• Gene: Bbs2 Location: Chr8:94794582-94825556 bp, - strand Genetic Position: Chr8, 46.14 cM
• Alliance: Bbs2^tm1.1Huss page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:296033
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP-flanked neomycin selection cassette replaced exons 5 to 13 (chr8:96599337-96612356). Regeneron's VelociMouse platform was used to generate mice. Cre-mediated recombination removed the floxed neo cassette. (J:296033)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Bbs2 Mutation: 44 strains or lines available

References

• Original: J:296033 Husson H, et al., Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice. Hum Mol Genet. 2020 Aug 29;29(15):2508-2522
• All: 1 reference(s)