Asxl1^tm1.1Miku
Targeted Allele Detail

Summary

• Symbol: Asxl1^tm1.1Miku
• Name: ASXL transcriptional regulator 1; targeted mutation 1.1, Mineo Kurokawa
• MGI ID: MGI:6369097
• Synonyms: Asxl1^G643fs
• Gene: Asxl1 Location: Chr2:153187750-153245927 bp, + strand Genetic Position: Chr2, 75.41 cM
• Alliance: Asxl1^tm1.1Miku page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:270023
• Parent Cell Line: RENKA (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A single G nucleotide was inserted at position 1925 in exon 13, resulting in a reading frameshift and premature stop codon (p.G643WfsX12). This mutation is equivalent to p.G646WfsX12, the most common mutation in the human ortholog. LoxP sites were inserted into introns 11 and 12. The FRT site flanked neomycin resistance gene cassette that was inserted downstream of the loxP site in intron 12, was removed through subsequent flp-mediated recombination. (J:270023)

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 Asxl1 Mutation: 116 strains or lines available

References

• Original: J:270023 Uni M, et al., Modeling ASXL1 mutation revealed impaired hematopoiesis caused by derepression of p16Ink4a through aberrant PRC1-mediated histone modification. Leukemia. 2019 Jan;33(1):191-204
• All: 1 reference(s)