Version: 8.0.0
Date: Tue Jan 28 2025
Atrtm1Twgl
MGI:3851820
Allele of Atr
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Atrtm1Twgl

Species
Mus musculus
Symbol
Atrtm1Twgl
Category
allele
Allele of gene
Atr
Transgenic Constructs
None
Synonyms
  • AtrSckN
Description
A transition mutation in exon 9 replaces a G with an A. This mutation replicates one identified in human patients with Seckel syndrome 1 that disrupts splicing. Reduced protein expression was confirmed by western blot analysis on spleen, kidney, and brain extracts.
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
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