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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The frizzy (fr) mutation is located between Izaz2.4 and D7Mit165 on Mus musculus Chromosome 7

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