About   Help   FAQ
Asxl3tm2.1(ASXL3*P1817A)Clia
Targeted Allele Detail
Summary
Symbol: Asxl3tm2.1(ASXL3*P1817A)Clia
Name: ASXL transcriptional regulator 3; targeted mutation 2.1, Can Liao
MGI ID: MGI:7575982
Synonyms: ASXL3 (P1817A)+
Gene: Asxl3  Location: Chr18:22477303-22663072 bp, + strand  Genetic Position: Chr18, 11.96 cM
Alliance: Asxl3tm2.1(ASXL3*P1817A)Clia page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:322485
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Asxl3tm2.1(ASXL3*P1817A)Clia expresses 1 gene
 
Mutation detailsExon 5 was replaced with the mouse 5' end of exon 5 including the ATG codon, human ASXL3 cDNA containing a C to G change at position 2168 (c.2168C>G) resulting in a proline to arginine substitution at amino acid 723 (p.P723R) and an FRT-flanked neomycin resistance gene. The neomycin resistance gene was removed via flp-mediated recombination. (J:322485)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
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 Asxl3 Mutation:  99 strains or lines available
References
Original:  J:322485 Fu F, et al., Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. Hum Genet. 2021 Feb;140(2):333-348
All:  2 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory