Version: 8.0.0
Date: Tue Jan 28 2025
Yars1tm1.1Rwb
MGI:7257843
Allele of Yars1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Yars1tm1.1Rwb

Species
Mus musculus
Symbol
Yars1tm1.1Rwb
Category
allele
Allele of gene
Yars1
Transgenic Constructs
None
Synonyms
  • YarsE196K
Description
Glutamic acid codon 196 (GAG) in exon 5 was changed to lysine (AAG) (p.E196K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 5 using BAC RP23-57A20 with recombineering. The neo cassette was removed through subsequent cre-mediated recombination. The mutation is associated with dominant intermediate Charcot-Marie-Tooth (CMT) disease type C (CMTC) in humans.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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