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| Nomenclature |
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Symbol:
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Ofd1tm1Bfra
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Name:
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oral-facial-digital syndrome 1 gene homolog (human);
targeted mutation 1, Brunella Franco
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MGI ID: |
MGI:3620081 |
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Synonyms: |
Ofd1delta4-5 |
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Gene:
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Ofd1
Location:
ChrX:166390033-166440704 bp, - strand
Genetic Position: ChrX,
77.28 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:106035
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Parent Cell Line:
| TBV2 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Exons 4 and 5 were flanked by loxP sites via homologous recombination. The Frt flanked neo cassette was removed by Flp recombinase in the ES cells. After Cre mediated recombination RT-PCR confirmed absence of these exons from transcripts in mutants and Western blot analysis failed to detect protein from recombined embryos. This allele was generated from Ofd1tm2.1 (J:106035)
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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 Ofd1 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:106035
Ferrante MI et al.,
"Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification."
Nat Genet 2006 Jan;38(1):112-7
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All: |
2 reference(s)
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Analysis Tools
