Mpaps1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Mpaps1^C57BL/6J
• Name: microphthalmia anophthalmia susceptibility 1; C57BL/6J
• MGI ID: MGI:3713348
• QTL: Mpaps1 Location: Chr2:97028557-112115196 bp Genetic Position: Chr2, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to microphthalmia and anophthalmia compared to BALB/cJ. (J:118795)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Mpaps1 was identified in Tg(AgrnCFP2R9)1Rwb transgenic animals.

Mapping and Phenotype information for this QTL, its variants and associated markers

J:118795

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.

References

• Original: 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
• All: 1 reference(s)