Atp7a^Mo-blo

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Species

Mus musculus

Symbol

Atp7a^Mo-blo

Category

allele

Allele of gene

Atp7a

Transgenic Constructs

None

Synonyms

• ATP7A^mut
• Blo

Show All 3

Description

The mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations