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A curly-tail modifier locus, mct1, on mouse chromosome 17
V A Letts1, N J Schork, A J Copp
1Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genomics
|October 10, 1995
Summary
Researchers identified a new gene, mct1, on chromosome 17 that modifies neural tube defects in curly-tail (CT) mice. This discovery helps explain variations in trait expression and provides a more complete genetic model for neural tube defects.
Area of Science:
- Genetics
- Developmental Biology
- Mouse Models
Background:
- The major gene for neural tube defects (NTDs), ct, is located on mouse chromosome 4.
- Incomplete penetrance of the NTD trait in curly-tail (CT) mice suggests the involvement of modifying genes.
- Previous studies indicated recessive modifiers or strain-specific alleles influencing NTD expression.
Purpose of the Study:
- To map a modifier locus for the curly-tail (CT) neural tube defect trait.
- To investigate the genetic basis of variable trait penetrance in CT mice.
- To refine the genetic model for CT-associated neural tube defects.
Main Methods:
- Genetic mapping using backcrosses of CT mice with BALB/cByJ and Mus spretus strains.
- Analysis of trait penetrance across different genetic backgrounds.
- Statistical modeling to determine the contribution of identified loci.
Main Results:
- A novel curly-tail modifier locus, mct1, was mapped to mouse chromosome 17.
- The mct1 locus significantly influenced trait penetrance in moderate and low penetrance crosses.
- Homozygosity at both ct and mct1 loci explained the majority of affected individuals in specific crosses.
Conclusions:
- The mct1 locus on chromosome 17 acts as a significant modifier of the ct gene in neural tube defect development.
- The combined action of ct and mct1 provides a more comprehensive model for understanding NTD variability.
- No evidence of epistatic interaction was found between the ct and mct1 loci.