Dym^{Gt(GTR1.3)1Rul}
Gene trapped Allele Detail

Summary

• Symbol: Dym^{Gt(GTR1.3)1Rul}
• Name: dymeclin; gene trap 1, H Earl Ruley
• MGI ID: MGI:3817312
• Gene: Dym Location: Chr18:75151852-75420035 bp, + strand Genetic Position: Chr18, 50.97 cM, cytoband E2
• Alliance: Dym^{Gt(GTR1.3)1Rul} page

Dym^{Gt(GTR1.3)1Rul}/Dym^{Gt(GTR1.3)1Rul} mice display growth plate abnormalities

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: b3p1h1
• Germline Transmission: Earliest citation of germline transmission: J:141099
• Parent Cell Line: AC1 (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGTR1.3
• Mutation details: The retrovirus gene trap vector GTR1.3 containing a puro gene, a lacZ gene, a Pol2 gene and a neo cassette was inserted into intron 16. The fusion transcript lacks exon 17 and encodes a fusion protein that replaces the last 49 amino acids with 137 irrelevant residues. (J:137511, J:141099)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  PSTVUpb4h5R1	CZ169622 ; (MGI Seq Detail)	3' RACE	Chr18:75419688-75420035 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  132 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

Expression

In Structures Affected by this Mutation:

14 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 Dym Mutation: 59 strains or lines available

References

• Original: J:141099 Osipovich AB, et al., Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16171-6
• All: 3 reference(s)