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Bbs1Gt1Nk
Gene trapped Allele Detail
Nomenclature
Symbol: Bbs1Gt1Nk
Name: Bardet-Biedl syndrome 1 (human); gene trap 1, Nicholas Katsanis
MGI ID: MGI:3055491
Synonyms: Bbs1-
Gene: Bbs1  Location: Chr19:4886898-4906627 bp, - strand  Genetic Position: Chr19, 4.14 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:92950
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Gene trapped (Null/knockout)
Mutation:    Insertion of gene trap vector
    A gene trap vector was inserted into intron 11, causing aberrant splicing as shown by RT-PCR. (J:92950)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Bbs1 Mutation:  51 strains or lines available
References
Original:  J:92950 Kulaga HM, et al., Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep;36(9):994-8
All:  3 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
06/12/2018
MGI 6.12
The Jackson Laboratory