Hgd^{tm1c(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Hgd^{tm1c(KOMP)Wtsi}
• Name: homogentisate 1, 2-dioxygenase; targeted mutation 1c, Wellcome Trust Sanger Institute
• MGI ID: MGI:6416342
• Gene: Hgd Location: Chr16:37400515-37452382 bp, + strand Genetic Position: Chr16, 26.4 cM
• Alliance: Hgd^{tm1c(KOMP)Wtsi} page

Mutation origin

• Mutant Cell Line: EPD0642_4_C10
• Germline Transmission: Earliest citation of germline transmission: J:287389
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 37433145 of Chromosome 16 upstream of the critical exon 6 (Build GRCm39). 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. A third loxP site is inserted downstream of the targeted exon 6 at position 37434039. The critical exon 6 is thus flanked by loxP sites. A conditional allele was created by flp recombinase expression in mice carrying this allele to remove the lacZ sequence and neo selection cassette, leaving exon 6 floxed. (J:287389)

Expression

In Structures Affected by this Mutation:

3 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 Hgd Mutation: 28 strains or lines available

References

• Original: J:287389 Hughes JH, et al., Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Hum Mol Genet. 2019 Dec 1;28(23):3928-3939
• All: 1 reference(s)