Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  7
• Reference
  J:87868 Asano Y, et al., Lamr1 functional retroposon causes right ventricular dysplasia in mice. Nat Genet. 2004 Feb;36(2):123-30
• ID
  MGI:3043856

Genes

Gene	Assay Type
D7Mit270	PCR amplified length variant

Notes

• Experiment
  A substrain of KK obese mice displaying severe right ventricular dysplasia (RVD) was identified. This phenotype resembles RVD in humans and matches the 3 criteria for RVD: regional right ventricular dysplasia, inheritability, and fibro-fatty replacement.This substrain is designated KK/Rvd by the authors.
  
  Linkage analysis was performed on 480 (KK x PWK)F1 x KK backcross animals. The PWK strain does not exhibit RVD. 165 microsatellite markers were screened and linkage to RVD was detected at 18 cM on mouse Chromosome 7 near D7Mit270 (LOD=4.67). This locus, designated rvd by the authors, exhibits recessive inheritance and was localized to a 3 cM interval. Screening of exonic sequences within this region resulted in identification of a 1,031 bp insertion that is present in the KK genome and absent in PWK. This insert is a retroposon insertion of a mutant form of Lamr1 and is named Lamr1^tp1 (Lamr1 transposed paralog 1) by the authors.