Awat2^tm1.2Golc
Targeted Allele Detail

Summary

• Symbol: Awat2^tm1.2Golc
• Name: acyl-CoA wax alcohol acyltransferase 2; targeted mutation 1.2, Marcin Golczak
• MGI ID: MGI:6729716
• Gene: Awat2 Location: ChrX:99445827-99486323 bp, - strand Genetic Position: ChrX, 43.71 cM
• Alliance: Awat2^tm1.2Golc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:308387
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6 x 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted 371 bp upstream of exon 3, and an FRT site, loxP site, neomycin resistance gene, another FRT site and a third loxP site were inserted 351 bp downstream of exon 5. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination deleted exons 3-5. Excision of these exons eliminates the part of the enzyme containing the catalytic residues 107HPGH110 encoded in exon 3 and introduces a stop codon following exons 6 and 7. RT-qPCR confirmed absence of transcript and immunofluorescence of skin and tarsal plate shows absence of protein. (J:308387)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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 Awat2 Mutation: 10 strains or lines available

Notes

ES cell - iTL HF4 (C57BL/6 x 129/SvEv FLP)

References

• Original: J:308387 Widjaja-Adhi MAK, et al., Deficiency in Acyl-CoA:Wax Alcohol Acyltransferase 2 causes evaporative dry eye disease by abolishing biosynthesis of wax esters. FASEB J. 2020 Oct;34(10):13792-13808
• All: 2 reference(s)