Asxl3^em1Jlp

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Species

Mus musculus

Symbol

Asxl3^em1Jlp

Category

allele

Allele of gene

Asxl3

Transgenic Constructs

None

Synonyms

• Asxl3^M1361V

Description

Methionine codon 1361 (ATG) in exon 13 was changed to valine (GTC) (p.M1361V) using a crRNA (targeting TCGCCCATCGCAATGTTTGC) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.M1415V mutant (SNPs rs181303838) found in some left ventricular noncompaction (LVNC) patients. The allele was created in zygotes that contained the Mib1^em1Jlp allele and created at the same time as the Apcdd1^em1Jlp allele.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations