Allele/Variant

Gabra2C57BL/6J

Species
Mus musculus
Symbol
Gabra2C57BL/6J
Category
allele
Allele of gene
Gabra2
Transgenic Constructs
None
Synonyms
  • Gabra2B6J
Description
This is spontaneous intronic single nucleotide deletion (a shortening of the homopolymer stretch of AAAA to AAA at Chr5:71,014,639-641 (GRCm38)). It is near a spice acceptor site and causes a substantial decrease in expression at the mRNA and protein levels in homozygous brain, with additional decreases in Gabra1, Gabra3, and Gabra5 transcripts in striatum This allele can be phenoytpically reversed entirely by the correction of this intronic point deletion (see Gabra2C57BL/6J+em1Geh).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations