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Pbx1em1Dunw
Endonuclease-mediated Allele Detail
Summary
Symbol: Pbx1em1Dunw
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: Pbx1em1Dunw page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 18 assay results
In Structures Affected by this Mutation: 16 anatomical structures
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:  29 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/30/2023
MGI 6.22
The Jackson Laboratory