Enam^Rgsc521

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Species

Mus musculus

Symbol

Enam^Rgsc521

Category

allele

Allele of gene

Enam

Transgenic Constructs

None

Synonyms

• Enam^tm3Rgsc
• M100521

Description

A T-to-A nucleotide substitution disrupts a donor splicing signal in intron 4, changing it from A-GT to A-GA, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations