Allele/Variant

Cwh43em1Mdj

Species
Mus musculus
Symbol
Cwh43em1Mdj
Category
allele
Allele of gene
Cwh43
Transgenic Constructs
None
Synonyms
  • CWH43M533
Description
CRISPR/Cas9 technology generated a CA-to-G change resulting in a frameshift and immediate premature stop codon in place of methionine codon 533 (p.M533*fs*1). This corresponds to the human chr4:49034669CA>C:p.L533*fs* mutation associated with idiopathic normal pressure hydrocephalus (iNPH). Immunohistochemistry shows loss of expression in the ventricular epithelia of homozygous mice.
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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