Mapping Data

Experiment

• Experiment
  TEXT-QTL
• Chromosome
  2
• Reference
  J:118795 Fuerst PG, et al., Defects in eye development in transgenic mice overexpressing the heparan sulfate proteoglycan agrin. Dev Biol. 2007 Mar 1;303(1):165-80
• ID
  MGI:3713347

Genes

Gene	Assay Type
Mpaps1	resistance/susceptibility
Pax6	reported elsewhere

Notes

• Experiment
  Genetic modifiers of ocular dysgenesis were mapped in 100 transgenic animals from a (BALB/cJ x C57BL/6J)F1 x C57BL/6J-Tg(AgrnCFP2R9)1Rwb backcross. Parental strain C57BL/6J appears to be sensitized to spontaneous occurrence of eye defects which is compounded by Agrn overexpression. Genome scan was performed with 140 SNP markers spaced approximately 10 Mb apart.
  
  Significant linkage to microphthalmia and anophthalmia susceptibility in the presence of Tg(AgrnCFP2R9)1Rwb mapped to 35 cM on mouse Chromosome 2 (P<0.001). This locus is named Mpaps1 (microphthalmia anophthalmia susceptibility 1). The QTL interval is located between SNP markers rs3692748 and rs3681694 and spans a 16 Mb region. Transgenic backcross animals homozygous for C57BL/6J-derived alleles at Mpaps1 display microphthalmia and anophthamlmia with 35% penetrance. Pax6 at 58 cM is a potential candidate gene for Mpaps1. Mutations in Pax6 have previously been shown to result in eye defects.
  
  Nearly suggestive loci mapped to 0 cM on chromosome 13 for persistent hyperplastic primary vitreous (PHPV), 65 cM on chromosome 4 for fetal fissure coloboma, 55 cM on chromosome 2 for lens cornea fusion, and 5 cM on chromosome 12 for iris cornea fusion.