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Targeted Allele Detail
Symbol: Bbs2tm1Vcs
Name: Bardet-Biedl syndrome 2 (human); targeted mutation 1, Val C Sheffield
MGI ID: MGI:3521669
Synonyms: Bbs2-
Gene: Bbs2  Location: Chr8:94067954-94098811 bp, - strand  Genetic Position: Chr8, 46.14 cM
Retinal comparison of wild type and Bbs2tm1Vcs/Bbs2tm1Vcs mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:94467
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 5-13 were replaced with a neo. Northern blot showed a lack of transcript in mutant kidney samples. (J:94467)
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 Bbs2 Mutation:  11 strains or lines available
Original:  J:94467 Nishimura DY, et al., Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.21
The Jackson Laboratory