Asxl3tm2.1(ASXL3*P1817A)Clia
Targeted Allele Detail
|
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
|
|
Germline Transmission: |
Earliest citation of germline transmission:
J:322485
|
Parent Cell Line: |
Not Specified (ES Cell)
|
Strain of Origin: |
Not Specified
|
|
Allele Type: |
|
Targeted (Humanized sequence, Inserted expressed sequence) |
Mutation: |
|
Insertion
|
|
|
Asxl3tm2.1(ASXL3*P1817A)Clia expresses
1 gene
Knock-in expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
ASXL3 (80816) |
|
Contains P1817A mutation |
|
|
|
Mutation details: Exon 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)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
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
|
|
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) |
|