Version: 8.0.0
Date: Tue Jan 28 2025
Mefvtm3.1(MEFV)Chae
MGI:5007912
Allele of Mefv
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Mefvtm3.1(MEFV)Chae

Species
Mus musculus
Symbol
Mefvtm3.1(MEFV)Chae
Category
allele
Allele of gene
Mefv
Transgenic Constructs
Synonyms
  • MefvM680I
Description
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 isoleucine for methionine at position 680 (p.M680I). The amino acid substitutions within exon 10 occur in the human-specific B30.2 domain. Cre-mediated recombination removed the neo cassette.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
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