Allele/Variant

Atrtm1Ofc

Species
Mus musculus
Symbol
Atrtm1Ofc
Category
allele
Allele of gene
Atr
Transgenic Constructs
None
Synonyms
  • ATRS
  • ATRseckel
Description
Exons 8 through 10 were replaced with the corresponding human sequences. In addition, exon 9 contains an A to G transition that mimicks the mutation found in patients with Seckel syndrome. This mutation results in the skipping of this exon through abnormal splicing.
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
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