Exen1^LM/Bc
QTL Variant Detail

Summary

• QTL variant: Exen1^LM/Bc
• Name: exencephaly 1; LM/Bc
• MGI ID: MGI:2389276
• QTL: Exen1 Location: unknown Genetic Position: Chr13, Syntenic

Variant origin

• Strain of Specimen: LM/Bc

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers decreased risk for exencephaly.
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Notes

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

J:71964

109 informative markers at an average spacing of 14 cM were typed in embryos from a (SELH/Bc x LM/Bc)F2 intercross to identify QTLs associated with exencephaly. Parental strain SELH/Bc exhibits a high frequency of exencephaly (10-30%) whereas normal parental strain LM/Bc exhibits 0.1% frequency of exencephaly. (SELH/Bc x LM/Bc)F1 hybrids exhibit low frequency of exencephaly (0.3%). A locus with significant linkage to exencephaly, Exen1, mapped to mouse Chromosome 13 from 30 cM - 40 cM (P<0.001 at D13Mit39). Fine mapping recombination breakpoints at Exen1 in 33 F2 embryos exhibiting exencephaly revealed strongest association at Lect2 and D13Mit13, approximately 35 cM - 37 cM. SELH/Bc-derived alleles appear to confer increased risk for exencephaly in a semidominant manner. Several candidate genes implicated in neural tube defect mutants map near Exen1 and include Tcfap2a, Jarid2, Msx2, Madh5, and Ptch. Other possible candidate genes in the region of Exen1 include Mad3, Pitx1, Neurog1, Tgfbi, Dhfr, and Irx1. Exen1 appears to interact with a locus on mouse Chromosome 11 at 63 cM suggestively linked to exencephaly (P = 0.063 at D11Mit10). Another suggestive locus maps to mouse Chromosome 5 at 78 cM (P = 0.02 at D5Mit168) but shows no interaction with Exen1. Possible candidate genes for the Chromosome 5 locus are Actb and Rac1.

References

• Original: J:71964 Juriloff DM, et al., Multifactorial genetics of exencephaly in SELH/Bc mice. Teratology. 2001 Oct;64(4):189-200
• All: 1 reference(s)