Mefvtm4.1(MEFV)Chae
Targeted Allele Detail
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| Symbol: |
Mefvtm4.1(MEFV)Chae |
| Name: |
Mediterranean fever; targeted mutation 4.1, Jae Jin Chae |
| MGI ID: |
MGI:5007913 |
| Synonyms: |
MefvM694 |
| Gene: |
Mefv Location: Chr16:3525082-3535961 bp, - strand Genetic Position: Chr16, 2.18 cM
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| Alliance: |
Mefvtm4.1(MEFV)Chae page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:172117
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| Parent Cell Line: |
TC1/TC-1 (ES Cell)
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| Strain of Origin: |
129S6/SvEvTac
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| Allele Type: |
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Targeted (Humanized sequence, Inserted expressed sequence) |
| Mutations: |
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Insertion, Intragenic deletion
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Mefvtm4.1(MEFV)Chae expresses
1 gene
Knock-in expresses:
| Organism |
Expressed Gene |
Homolog in Mouse |
Note |
| human |
MEFV (4210) |
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Mutation details: A floxed neo cassette was inserted downstream of exon 6. The genomic sequence corresponding to exons 7 through 10 was replaced with the corresponding human sequence with nucleotide substitutions that result in the amino acid substitution of valine for methionine at position 694 (p.M694V). The amino acid substitutions within exon 10 occur in the human-specific B30.2 domain. Cre-mediated recombination removed the neo cassette.
(J:172117)
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View phenotypes and curated references for all genotypes (concatenated display).
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Mefv Mutation: |
44 strains or lines available
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| Original: |
J:172117 Chae JJ, et al., Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1beta Activation and Severe Autoinflammation in Mice. Immunity. 2011 May 27;34(5):755-68 |
| All: |
2 reference(s) |
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Analysis Tools
