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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: Chr9:59321966-59353508 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 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:  6 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:  15 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 6.01
The Jackson Laboratory