Jakob_PS6

1 mmutantphenotypedominant a mdeaddominantlethal b

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Unformatted text preview: IN
QUIZ)
 
 Characterizing
a
mutation
 
 m
=
mutant
allele
of
interest
 +
=
wild‐type
allele
 null
or
Df
=
complete
loss
of
function
 lf
=
recessive
loss
of
function
 
 First
analyze
the
heterozygote
to
determine
if
mutation
is
dominant
or
recessive,
then
 compare
to
other
mutants
to
further
characterize
the
type
of
mutation.
 
 1. +/m
=
mutant
phenotype

dominant
 a. +/m
=
dead
→
dominant
lethal
 b. +/m
=
lf/lf
→
dominant
negative
 c. +/m
=
+/null
→
haploinsufficient
 d. else
→
gain
of
function
 
 2. +/m
=
wild‐type
phenotype

recessive
 a. m/m
=
dead
→
recessive
lethal
 b. m/m
=
Df/Df
→
null
mutation
 c. else
→
weak
loss
of...
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