Allele/Variant

Dag1tm1.1Sabl

Species
Mus musculus
Symbol
Dag1tm1.1Sabl
Category
allele
Allele of gene
Dag1
Transgenic Constructs
None
Synonyms
  • Dag1C667F
Description
Cysteine codon 667 (TGC) in exon 4 was changed to phenylalanine (TTC) (p.C667F) and a loxP site flanked neomycin resistance gene cassette was insterted into intron 3. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the human c.2006G>T:p.C669F mutation associated with muscle-eye-brain (MEB) disease with multicystic leukodystrophy.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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