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| Nomenclature |
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Symbol:
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Ihhtm1.1Dcha
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Name:
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Indian hedgehog;
targeted mutation 1.1, Danny Chan
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MGI ID: |
MGI:3842979 |
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Synonyms: |
IhhE95K |
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Gene:
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Ihh
Location:
Chr1:74945319-74951651 bp, - strand
Genetic Position: Chr1,
38.55 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:147878
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A 397G>A substitution was introduced into exon 1 and a floxed neo cassette was inserted into intron 1 via homologous recombination. Cre mediated recombination then removed the neo cassette leaving a single loxP site in intron 1. The point mutation results in a E95K mutation in the protein. (J:147878)
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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 Ihh Mutation:
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2 strains or lines available |
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Notes |
ES cell line = L4.
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| References |
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Original: |
J:147878
Gao B et al.,
"A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range."
Nature 2009 Apr 30;458(7242):1196-200
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All: |
2 reference(s)
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