Allele/Variant

Hmga2em1Sson

Species
Mus musculus
Symbol
Hmga2em1Sson
Category
allele
Allele of gene
Hmga2
Transgenic Constructs
None
Synonyms
  • Hmga2-
  • Hmga2tamu-ko
Description
CRISPR/Cas9 technology introduced a seven-nucleotide insertion in exon 1, introducing a premature stop codon at codon 36. The insertion unexpectedly created a new splice donor site which resulted in a deletion of 14 nucleotides in the transcript and a frameshift after codon 35 resulting in an alternate open reading frame that can potentially be translated into a protein 72 amino acids longer than the wild-type protein. Western blot analysis with an N-terminal region antibody showed the expression of this larger protein in homozygotes while a C-terminal antibody confirmed the absence of the normal wild-type protein.
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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