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CCSU Theses & Dissertations
The frizzy (fr) mutation is located between Izaz2.4 and D7Mit165 on Mus musculus Chromosome 7
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The frizzy (fr) mutation is located between Izaz2.4 and D7Mit165 on Mus musculus Chromosome 7
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Description
Identifier
Thesis
1951
Author
Khan, Izaz M.
Title
The
frizzy
(fr)
mutation
is
located
between
Izaz2.4
and
D7Mit165
on
Mus
musculus
Chromosome
7
Publisher
Central Connecticut State University
Date of Publication
2008
Resource Type
Master's Thesis
Abstract
The
mouse
frizzy
(fr)
mutation
is
a
Mendelian
recessive
trait
that
affects
hair
structure
and
formation
in
mice
. The
mutation
arose
in a
mouse
of
mixed
origin
at the
Jackson
Lab
(Bar
Harbor
,
ME)
in
1951
.
Frizzy
is
known
to be
linked
to
other
genes
responsible
for the
phenotypes
of
pink-eyed
dilution
(p)
,
chinchilla
(cch)
and a
behavioral
marker
(shaker-1
,
sh-1)
on
mouse
chromosome
7
. Of these
four
classical
variants
,
only
fr
has not
yet
been
associated
with a
known
gene
. In
order
to
support
the
eventual
positional
cloning
of
mouse
fr
,
our
lab
has been
working
to
determine
the
precise
chromosomal
location
of the
frizzy
(fr)
gene
in
mice
.
We
have
previously
shown
that
fr
and
Fgfr2
(a
neighboring
gene
involved
in the
formation
of
various
tissue
types—including
hair)
are
independent
of
each
other
and that
Fgfr2
lies
telomeric
to
fr
. The
fr
region
on
Chromosome
7
was
analyzed
further
by
creating
a
93-member
backcross
panel
that
segregated
for
fr
, and was
derived
from the
inbred
strains
C57BL/6
(B6)
and
FS/EiJ
(FS)
. The
use
of
PCR-scorable
microsatellite
markers
in
characterizing
this
panel
placed
fr
between
two
markers
,
D7Mit41
and
D7Mit165
, a
region
that
is
6.34
Mb
long
and
includes
139
known
genes
.
Use
of this
backcross
panel
to
further
refine
the
genetic
map
for
fr
was
stymied
by a
lack
of
genetic
markers
in the
critical
region
known
to
reveal
genetic
differences
carried
by the
FS
and
B6
strains
. Here,
we
have
assessed
11
different
300
to
1000
bp
sequences
in the
critical
region
,
looking
for
single
nucleotide
polymorphisms
(SNPs)
between
inbred
strains
B6
,
FS
,
BALB/c
, and
DBA/2
, in
order
to
find
which
strain
will
provide
the
most
genetic
variation
with
FS
. From the
SNPs
observed
,
we
have
identified
and
designated
three
new
markers
:
Izaz3.3
(also
called
D7Csu1)
,
Izaz2.4
(D7Csu3)
, and
Izaz1.5
(D7Csu5)
. The
Izaz3.3
and
Izaz2.4
sequences
are
distinct
in the
B6
and
FS
strains
, and have been
used
to
characterize
the
93-member
(B6
x
FS)F1
x
FS
backcross
panel
. This
analysis
has
located
fr
between
Izaz2.4
and
D7Mit165
, a
span
that
is
3.44
Mb
long
and
includes
120
genes
.
Izaz1.5
is
located
in the
Izaz2.4
to
D7Mit165
interval
, but this
site
appears
currently
to
offer
SNPs
only
between
the
FS
and
BALB/c
strains
. A
(BALB
x
FS)
F1
x
FS
backcross
panel
will be
needed
to
determine
fr's
location
with
respect
to
Izaz1.5
.
Subject
Chromosome abnormalities
Mice -- Genetics
Department
Department of Biomolecular Sciences
Advisor
King, Thomas R.
Type
Text
Digital Format
application/pdf
Language
eng
OCLC number
713735111
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