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Targeted Allele Detail
Symbol: Bbs4tm1Vcs
Name: Bardet-Biedl syndrome 4 (human); targeted mutation 1, Val C Sheffield
MGI ID: MGI:3045473
Synonyms: Bbs4-, Bbs4tm1Shef
Gene: Bbs4  Location: Chr9:59321990-59353508 bp, - strand  Genetic Position: Chr9, 32.01 cM
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 detailsExons 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).
Disease models
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:  12 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:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory