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| Nomenclature |
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Symbol:
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Six3tm3Gco
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Name:
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sine oculis-related homeobox 3;
targeted mutation 3, Guillermo Oliver
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MGI ID: |
MGI:3814869 |
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Synonyms: |
Six3cki, Six3V250 |
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Gene:
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Six3
Location:
Chr17:85613608-85631813 bp, + strand
Genetic Position: Chr17,
55.42 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:140315
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: A single bp transition (T749C) was introduced into the first exon. This causes a valine to alanine change at amino acid residue 250. In addition, a floxed cassette containing a stop codon and a neomycin resistance gene was inserted upstream of the first exon thus inactivating the knocked-in mutation. (J:140315)
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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 Six3 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:140315
Geng X et al.,
"Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly."
Dev Cell 2008 Aug;15(2):236-47
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All: |
1 reference(s)
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