Pbx1^em1Dunw

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Species

Mus musculus

Symbol

Pbx1^em1Dunw

Category

allele

Allele of gene

Pbx1

Transgenic Constructs

None

Synonyms

• R184P

Description

CRISPR/Cas9 technology introduced a G to C change at position 551 (c.551G>C) resulting in an arginine to proline substitution at amino acid 184 (R184P) in exon 4. The R184P missense variant was identified in an individual of a cohort of congenital heart disease patients, having tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations