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| Nomenclature |
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Symbol:
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Jak2tm1.2Ble
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Name:
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Janus kinase 2;
targeted mutation 1.2, Benjamin L Ebert
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MGI ID: |
MGI:4818801 |
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Synonyms: |
Jak2V617F, Jak2VF |
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Gene:
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Jak2
Location:
Chr19:29251828-29313080 bp, + strand
Genetic Position: Chr19,
23.73 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:160883
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion, Single point mutation |
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Mutation details: A loxP site was inserted upstream of exon 14 and a cassette, consisting of a loxP511
site, a linker, an inverted loxP site, an inverted exon 14 containing a G1849T mutation, an inverted loxP511 site, and an FRT flanked neo selection cassette, was inserted downstream of exon 14 via homologous recombination. The neo cassette was removed by flp mediated recombination. Cre mediated recombination results in the removal of the endogenous exon 14 and the inversion of the mutated exon 14. The G1849T mutation results in a V617F substitution. (J:160883)
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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 Jak2 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:160883
Mullally A et al.,
"Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells."
Cancer Cell 2010 Jun 15;17(6):584-96
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All: |
2 reference(s)
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Analysis Tools
