Pbx1^em1Dunw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pbx1^em1Dunw
• Name: pre B cell leukemia homeobox 1; endonuclease-mediated mutation 1, Sally L Dunwoodie
• MGI ID: MGI:6883575
• Synonyms: R184P
• Gene: Pbx1 Location: Chr1:167946933-168259839 bp, - strand Genetic Position: Chr1, 75.95 cM
• Alliance: Pbx1^em1Dunw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:320934)

Disease models

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	16 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pbx1 Mutation: 40 strains or lines available

References

• Original: J:320934 Alankarage D, et al., Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Hum Mol Genet. 2020 May 8;29(7):1068-1082
• All: 1 reference(s)