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| Nomenclature |
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Symbol:
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Bbs1Gt1Nk
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Name:
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Bardet-Biedl syndrome 1 (human);
gene trap 1, Nicholas Katsanis
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MGI ID: |
MGI:3055491 |
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Synonyms: |
Bbs1- |
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Gene:
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Bbs1
Location:
Chr19:4886898-4906627 bp, - strand
Genetic Position: Chr19,
4.14 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:92950
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Gene trapped |
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Mutation: | |
Insertion of gene trap vector |
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A gene trap vector was inserted into intron 11, causing aberrant splicing as shown by RT-PCR. (J:92950)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Bbs1 Mutation:
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42 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
