Allele/Variant

Smarca2tm1Mya

Species
Mus musculus
Symbol
Smarca2tm1Mya
Category
allele
Allele of gene
Smarca2
Transgenic Constructs
None
Synonyms
  • BRM-
Description
The majority of the exon encoding amino acids 120-176 was replaced with a neomycin resistance cassette via homologous recombination. RT-PCR analysis of liver RNA from homozygous mutant animals revealed a faint truncated transcript resulting from an alternative splice product which skips the disrupted exon. Western blot analysis of brain nuclear extracts detected a shortened protein product expressed at less than 1% the amount of wild-type protein. Co-immunoprecipitation experiments showed that the mutant protein lacked functional capabilities.
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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