Version: 8.0.0
Date: Tue Jan 28 2025
Alpk1em1Dlka
MGI:7614851
Allele of Alpk1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Alpk1em1Dlka

Species
Mus musculus
Symbol
Alpk1em1Dlka
Category
allele
Allele of gene
Alpk1
Transgenic Constructs
None
Synonyms
  • Alpk1T237M
Description
Threonine codon 237 (ACA) in exon 9 was changed to methionine (ATG) (p.T237M) using an sgRNA (targeting ACAGGGCATTTCCACATCAC) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome.
Additional Information
Literature

Transgenic Constructs

No data available

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
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