Allele/Variant

Wlsem1Jgg

Species
Mus musculus
Symbol
Wlsem1Jgg
Category
allele
Allele of gene
Wls
Transgenic Constructs
None
Synonyms
  • WlsY392C
Description
CRISPR/Cas9 technology generated a tyrosine to cysteine substitution at amino acid 392 (p.Y392C). This is a pathogenic variant identified in children with Zaki syndrome consisting of multiorgan defects, microcephaly and facial dysmorphism.
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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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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