Asxl3^{tm1.1(ASXL3*P723R)Clia}
Targeted Allele Detail

Summary

• Symbol: Asxl3^{tm1.1(ASXL3*P723R)Clia}
• Name: ASXL transcriptional regulator 3; targeted mutation 1.1, Can Liao
• MGI ID: MGI:7575978
• Synonyms: ASXL3 (P723R)⁺
• Gene: Asxl3 Location: Chr18:22477303-22663072 bp, + strand Genetic Position: Chr18, 11.96 cM
• Alliance: Asxl3^{tm1.1(ASXL3*P723R)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
• Asxl3^{tm1.1(ASXL3*P723R)Clia} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ASXL3 (80816)

  Asxl3

  (MGI:2685175)

  Contains P723R 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)

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)