Bbs4^tm1Vcs
Targeted Allele Detail

Summary

• Symbol: Bbs4^tm1Vcs
• Name: Bardet-Biedl syndrome 4; targeted mutation 1, Val C Sheffield
• MGI ID: MGI:3045473
• Synonyms: Bbs4^-, Bbs4^tm1Shef
• Gene: Bbs4 Location: Chr9:59229273-59260791 bp, - strand Genetic Position: Chr9, 32.01 cM
• Alliance: Bbs4^tm1Vcs page

Examination of wild-type and Bbs4^tm1Vcs/Bbs4^tm1Vcs mouse retina

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:90812
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 6-11 were replaced with a neo cassette, removing approximately one-third of the coding sequence and resulting in a frameshift. Northern blot indicated lack of transcript in kidneys of mutants. (J:90812)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Bbs4 Mutation: 19 strains or lines available

References

• Original: J:90812 Mykytyn K, et al., Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8664-9
• All: 23 reference(s)