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incomplete dominance
heterozygote has an intermediate phenotype
gain of function
make mutant gene product that interferes with function of the normal gene product
allelic series / multiple alleles
the set of forms of one gene differing in their DNA sequence or expression or both
full/complete dominance
an allele that expresses itself the same in single copy (heterozygote) as in double copy (homozygote)
null mutation
a mutation that results in complete absence of function for the gene
dominant negative
a mutant allele that in a single dose (heterozygote) wipes out gene function by a spoiler effect on the protein
incomplete dominance
a form of gene interaction in which both alleles of a gene at a locus are partially expressed, often resulting in an intermediate or different phenotype
codominance
a situation in which a heterozygote shows the phenotypic effects of both alleles equally
temperature sensitive
a conditional mutation that produces the mutant phenotype in one temperature range and the wild type phenotype in another temperature range
permissive temperature
the temperature at which a temperature sensitive mutant allele is expressed that same as the wild-type allele
restrictive temperature
the temperature at which a temperature sensitive mutation expresses the mutant phenotype
penetrance
the proportion of individuals with a specific genotype that manifest the genotype at the phenotype level
expressivity
the degree to which a particular genotype is expressed in the phenotype, the phenotype varies in intensity or other measure
pleiotropic
mutations that affect multiple phenotypes are
haploinsufficient
genes that require two functional alleles
dominant negative
mutations produce a gene product that interferes with the function of the WT gene product
codominance
both phenotypes are present in a heterozygote
incomplete penetrance
not all individuals of a mutant genotype express the mutant phenotyoe
dihybrid cross ratio
9 3 3 1
recessive epistasis
one mutation over rules the effect of another mutation
recessive epistasis
genes in the same pathway
complementation test
a test if two mutant strains that cant make blue pigment have mutations in the same or different genes
complementation
production of wild type phenotype when two full or partial haploid genomes are united in the same cell
no gene interaction
9 3 3 1
genes in the same pathway
9 7
9 3 4
recessive epistasis
epistasis
where the expression of one gene is modified by the expression of one or more other genes (independently inherited genes)
12 3 1
dominant epistasis
suppressor
a secondary mutation that can cancel the effect of a primary mutation resulting in wildtype phenotype
revertants
a mutant gene that regains a formed capability by undergoing further mutation
modifier
a mutation at a second locus that changes the degree of expression of a mutated gene at a first locus
synthetic lethals
refers to a double mutant that is lethal, whereas the component single mutations are not
complete dominance
a pea plant that is either homozygous dominant or heterozygous for a trait always displays the dominant phenotype
incomplete dominance
in humans one sickle cell (mutant) allele causes moderate severity disease, and two sickle cell alleles have severe anemia
dominant negative
brittle bone disease is a condition where the monomer protein that makes up collagen results in all mutant collagen proteins if one allele is mutant
recessive lethal
zebrafish can carry an allele for a a recessive mutation called zombie. in a cross between 2 heterozygotes the offspring are 1/3 homo for wildtype 2/3 hetero and there are not viable double mutants
codominance
parents with blood types AA and BB are phenotypically A and B respectively. they have a child that is blood type AB with the phenotype AB
haploinsufficient
in a mouse model, there is a gene that encodes for transcription factor that normally turns on of an essential gene. when the mouse is heterozygous for the gene, the transcription factor does not make enough of the protein, resulting in a mutant phenotype