Pax3^Sp-d

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Species

Mus musculus

Symbol

Pax3^Sp-d

Category

allele

Allele of gene

Pax3

Transgenic Constructs

None

Synonyms

• Pax3^Spd
• Sp^d

Show All 3

Description

This mutation comprises a transversion mutation altering coding nucleotide 124 from a G to a C (c.124G>C), which results in a glycine to arginine substitution at position 42 of the protein (p.G42R). This position corresponds to the ninth amino acid of the paired domain. Northern blot analysis on RNA derived from homozygous mice demonstrated that mRNA levels were approximately 5 fold lower than wild-type.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations