Adamts19^{tm4b(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Adamts19^{tm4b(EUCOMM)Wtsi}
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 19; targeted mutation 4b, Wellcome Trust Sanger Institute
• MGI ID: MGI:6416159
• Synonyms: Adamts19^KO, Adamts19^tm4b
• Gene: Adamts19 Location: Chr18:58969739-59187132 bp, + strand Genetic Position: Chr18, 33.78 cM
• Alliance: Adamts19^{tm4b(EUCOMM)Wtsi} page
• IMPC: Adamts19 gene page

Mutation origin

• Mutant Cell Line: MEPD1003_3_C02
• Germline Transmission: Earliest citation of germline transmission: J:287334
• Parent Cell Line: JM8A3.N1.C2 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 59022839 of Chromosome 18 upstream of the critical exon (exon 3) (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 exon 3 at position 59023716. Exon 3 is thus flanked by loxP sites. A null/knockout allele was created by cre recombinase expression in mice carrying the tm4a allele to remove the neo selection cassette and loxP-flanked critical exon. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml (J:287334)

Disease models

Expression

In Mice Carrying this Mutation:	54 assay results 1 RNA-Seq or microarray experiment(s)
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 Adamts19 Mutation: 56 strains or lines available

References

• Original: J:287334 Wunnemann F, et al., Loss of ADAMTS19 causes progressive non-syndromic heart valve disease. Nat Genet. 2020 Jan;52(1):40-47
• All: 1 reference(s)