Otx2m1^C57BL/6
QTL Variant Detail

Summary

• QTL variant: Otx2m1^C57BL/6
• Name: orthodenticle homolog 2 modifier 1; C57BL/6
• MGI ID: MGI:2445569
• QTL: Otx2m1 Location: Chr18:21568682-36187740 bp Genetic Position: Chr18, cM position of peak correlated region/allele: 11.96 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6

Variant description

• Allele Type: QTL
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

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

J:80031

A variation of craniofacial phenotypes was observed in mice that were heterozygous for Otx2. This variation led the authors to conduct a genome wide scan to discover loci that modified the Otx2 phenotype. N2 and N3 generations involving crosses of CBA and C57BL/6 mice were informative. A modifier region on mouse Chromosome 18 between D18Mit68 and D18Mit120 with a peak LOD score of 3.33 at D18Mit68 was observed. Another modifier region was found to reside within mouse Chromosome 2 bounded by D2Mit164 and D2Mit282 with a peak LOD score of 3.93 at D2Mit282. The modifiers were identified as Otmf18(MGI Otx2m1) and Otmf2(MGI: Otx2m2) on chromosome 18 and 2 respectively. A possible candidate for the Chromosome 2 region is Alx4. CBA-derived alleles confer asmall mandible or absent mandible at Otx2m1 with a dominant mode of inheritance. C57BL/6-derived alleles confer an absent mandible at Otx2m2 with a recessive mode of inheritance.

References

• Original: J:80031 Hide T, et al., Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Development. 2002 Sep;129(18):4347-57
• All: 1 reference(s)