Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  18
• Reference
  J:198551 Buchovecky CM, et al., A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett Syndrome. Nat Genet. 2013;45(9):1013-20
• ID
  MGI:5502744

Genes

Gene	Allele
Sum5	Sum5^M1Jus

Notes

• Experiment
  A dominant N-ethyl-N-nitrosourea (ENU) mutagenesis suppressor screen in Mecp2-null mice was carried out that isolated five suppressors that ameliorate the symptoms of Mecp2 loss.
  
  C57BL/6J male mice were treated with ENU and mated to female mice heterozygous for the Bird null allele of Mecp2 made congenic on a 129S6/SvEv genetic background (129S6.129P2(B6)-Mecp2^tm1.1Bird/+). The first-generation (G1) Mecp2-null males (Mecp2^tm1.1Bird/Y) were screened for rescue of neurological defects using a health scoring system that included assessments of limb clasping, tremors, body size, cage activity and development of skin and/or eye inflammation or malocclusion. Of 2,963 G1 mice weaned, 1,522 were male and 679 were Mecp2^tm1.1Bird/Y.
  
  Some of these mice showed amelioration of one or more of the health assessment traits. These 25 males were placed in mating cages to assess heritability and longevity caused by a putative second-site mutation; litters were obtained from seven of the mice. Five lines showed inherited suppressor loci, which were named suppressor of Mecp2 mutations 1-5
  (Sum1^M1Jus, MGI:5489912; Sum2^M1Jus, MGI:5489913; Sqle^Sum3-Jus, MGI:5489914; Sum4^M1Jus, MGI:5489915; and Sum5^M1Jus, MGI:5489916.
  
  The resulting genotypes were analyzed for heterozygous C57BL/6J linkage to the rescue phenotype. These data showed significant linkage for Sum^M1Jus on mouse Chromosome 16 (LOD score, 4.82), for Sum2^M1Jus on Chromosome 3 (LOD score, 3.61), for Sum3^M1Jus on Chromosome 15 (LOD score, 3.03) and for Sum4^M1Jus on Chromosome 7 (LOD score, 3.40) The maximum LOD score for Sum5^M1Jus was 2.86; no map location was confirmed in this line.
  
  Sum5^M1Jus was determined, by sequence analysis, to be syntenic on Chromosome 18.