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| Nomenclature |
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Symbol:
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Bbs2tm1Vcs
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Name:
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Bardet-Biedl syndrome 2 (human);
targeted mutation 1, Val C Sheffield
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MGI ID: |
MGI:3521669 |
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Synonyms: |
Bbs2- |
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Gene:
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Bbs2
Location:
Chr8:94067954-94098811 bp, - strand
Genetic Position: Chr8,
46.14 cM
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Retinal comparison of wild type and Bbs2tm1Vcs/Bbs2tm1Vcs mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94467
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 5-13 were replaced with a neo. Northern blot showed a lack of transcript in mutant kidney samples. (J:94467)
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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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| References |
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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
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All: |
10 reference(s)
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Analysis Tools
