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| Nomenclature |
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Symbol:
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Bbs1tm1Vcs
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Name:
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Bardet-Biedl syndrome 1 (human);
targeted mutation 1, Val C Sheffield
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MGI ID: |
MGI:3767672 |
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Synonyms: |
Bbs1M390R |
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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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Sperm flagella loss and photoreceptor defects in Bbs1tm1Vcs/Bbs1tm1Vcs 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:128532
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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-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: The 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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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: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
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All: |
6 reference(s)
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Analysis Tools
