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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: Chr19:4886898-4906627 bp, - strand  Genetic Position: Chr19, 4.14 cM
Sperm flagella loss and photoreceptor defects in Bbs1tm1Vcs/Bbs1tm1Vcs mice

Show the 3 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)
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Disease models
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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:  41 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:  8 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 6.01
The Jackson Laboratory