Abca3^tm1.1Smgt
Targeted Allele Detail

Summary

• Symbol: Abca3^tm1.1Smgt
• Name: ATP-binding cassette, sub-family A member 3; targeted mutation 1.1, Surafel Mulugeta
• MGI ID: MGI:6306273
• Synonyms: Abca3^E292V
• Gene: Abca3 Location: Chr17:24570997-24629178 bp, + strand Genetic Position: Chr17, 12.38 cM, cytoband A3.3
• Alliance: Abca3^tm1.1Smgt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:274491
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Glutamic acid codon 292 (GAG) in exon 9 was changed to valine (p.E292V). Flp-mediated recombination removed the FRT site flanked neomycin resistance gene cassette inserted into intron 8. The mutation represents the same human mutation associated with neonatal respiratory distress syndrom, childhood interstitial lung disease and diffuse parenchymal lung disease (DPLD) in adults. (J:274491)

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 Abca3 Mutation: 92 strains or lines available

References

• Original: J:274491 Beers MF, et al., Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene. Ann Anat. 2017 Mar;210:135-146
• All: 2 reference(s)