Bola2^{tm1.1(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Bola2^{tm1.1(KOMP)Wtsi}
• Name: bolA family member 2; targeted mutation 1.1, Wellcome Trust Sanger Institute
• MGI ID: MGI:6415693
• Gene: Bola2 Location: Chr7:126295172-126295865 bp, + strand Genetic Position: Chr7, 69.25 cM
• Alliance: Bola2^{tm1.1(KOMP)Wtsi} page
• IMPC: Bola2 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:284746
• Parent Cell Line: JM8A1.N3 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The insertion of the L1L2_Bact_P cassette created a deletion of size 564 starting at position 126295347 and ending at position 126295911 of Chromosome 7 (Genome Build GRCm39). This deletion results in the removal of functionally critical exon(s). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. FLP-mediated recombination removed the lacZ and neomycin selectino cassette in the germline. (J:284746)

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 Bola2 Mutation: 6 strains or lines available

References

• Original: J:284746 Giannuzzi G, et al., The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Am J Hum Genet. 2019 Nov 7;105(5):947-958
• All: 1 reference(s)