Version: 8.0.0
Date: Tue Jan 28 2025
Notch2tm1.1Hhtg
MGI:6766469
Allele of Notch2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Notch2tm1.1Hhtg

Species
Mus musculus
Symbol
Notch2tm1.1Hhtg
Category
allele
Allele of gene
Notch2
Transgenic Constructs
None
Synonyms
  • Notch2F2091SfsX4
  • Notch2HCS
Description
The T at position 6272 in exon 34 was deleted. An FRT-flanked PGK/gb2-neomycin cassette was inserted upstream of exon 34 and was removed via flp-mediated recombination. The 6272delT mutation results in a premature stop codon eight nucleotides further downstream (p.Phe2091SerfsX4). This is a Hajdu Cheney Syndrome-associated mutation.
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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