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Doublefoot: a new mouse mutant affecting development of limbs and head
M F Lyon1, R Quinney, P H Glenister
1Mammalian Genetics Unit, Medical Research Council, Didcot, Oxfordshire, UK.
Genetical Research
|December 1, 1996
Summary
The spontaneous mouse mutation doublefoot (Dbf) causes polydactyly and developmental defects. Homozygotes are not viable, and heterozygotes exhibit reduced fertility and growth, impacting limb and cranial development.
Area of Science:
- Genetics and Developmental Biology
- Mammalian Genetics
- Teratology
Background:
- A spontaneous autosomal dominant mutation, doublefoot (Dbf), was identified in mice.
- This mutation affects multiple developmental processes, leading to a complex phenotype.
Purpose of the Study:
- To characterize the genetic and phenotypic features of the Dbf mutation.
- To investigate the developmental effects and viability of Dbf homozygotes and heterozygotes.
- To determine the genetic mapping of the Dbf locus.
Main Methods:
- Genetic crosses and phenotypic analysis of Dbf mutant mice.
- Microsatellite marker analysis for gene mapping.
- Embryonic staging and morphological assessment of prenatal development.
Main Results:
- Dbf is an autosomal dominant mutation mapping to chromosome 1.
- Heterozygotes display polydactyly, skeletal abnormalities, hydrocephalus, and impaired fertility.
- Homozygotes exhibit severe craniofacial defects and are not viable past mid-gestation.
Conclusions:
- The Dbf mutation causes significant developmental abnormalities and reduced viability.
- Homozygosity for Dbf is embryonically lethal due to severe developmental defects.
- The Dbf gene locus is distinct from Pax3, ruling out a simple gain-of-function in Pax3.