About   Help   FAQ
Targeted Allele Detail
Symbol: Bbs1tm1Vcs
Name: Bardet-Biedl syndrome 1 (human); targeted mutation 1, Val C Sheffield
MGI ID: MGI:3767672
Synonyms: Bbs1M390R
Gene: Bbs1  Location: Chr19:4936906-4956656 bp, - strand  Genetic Position: Chr19, 4.14 cM
Alliance: Bbs1tm1Vcs page
Sperm flagella loss and photoreceptor defects in Bbs1tm1Vcs/Bbs1tm1Vcs mice

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:128532
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsThe methionine codon (ATG) at position 390 in exon 12 was replaced with an arginine codon (AGG) and a neo cassette was inserted into intron 12 via homologous recombination. Northern blot analysis indicated that mRNA expression is not reduced in homozygous brains. (J:128532)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 12 anatomical structures
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 Bbs1 Mutation:  55 strains or lines available
Original:  J:128532 Davis RE, et al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7
All:  20 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory