Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Bbs4tm1Vcs Name: Bardet-Biedl syndrome 4; targeted mutation 1, Val C Sheffield MGI ID: MGI:3045473 Synonyms: Bbs4-, Bbs4tm1Shef Gene: Bbs4  Location: Chr9:59229273-59260791 bp, - strand  Genetic Position: Chr9, 32.01 cM Alliance: Bbs4tm1Vcs page

Examination of wild-type and Bbs4tm1Vcs/Bbs4tm1Vcs mouse retina Show the 2 phenotype image(s) involving this allele.

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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

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)