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QTL Variant Detail
QTL variant: Parms1C57BL/6NCrl
Name: patched associated RMS 1; C57BL/6NCrl
MGI ID: MGI:3522458
Synonyms: Parms1C57BL/6NCrlBR
QTL: Parms1  Location: Chr2:74524117-114123532 bp  Genetic Position: Chr2, Syntenic
Strain of Specimen:  C57BL/6NCrl
Allele Type:    QTL
Mutation:    Undefined
    This allele confers resistance to rhabdomyosarcoma development compared to BALB/cByJ. (J:93364)
View phenotypes and curated references for all genotypes (concatenated display).

Mapping and Phenotype information for this QTL, its variants and associated markers


Linkage analysis was performed on 89 C57BL/6NCrlBR x (BALB/cByJ x B6.129-Ptch1tm1Zim)F1 backcross animals to identify QTLs associated with susceptibility to muscle tumor development, or rhabdomyosarcomas (RMS). Parental strain BALB/cByJ is susceptible to RMS formation whereas parental strain C57BL/6NCrlBR is resistant. 97 polymorphic markers at an average spacing of 14 cM were used for the genome scan. Animals were monitored for RMS tumors over a period of 420 days.

Linkage to RMS development mapped to 47.5 cM on mouse Chromosome 2 near D2Mit42. This locus is named Parms1 (patched associated RMS 1). C57BL/6NCrlBR-derived alleles confer resistance and BALB/cByJ-derived alleles confer susceptibility to RMS development at Parms1. (Susceptibility is defined as a shorter RMS latency time.) 33% of animals homozygous for C57BL/6NCrlBR-derived alleles develop RMS at an average of 161.5 days whereas 64% of heterozygous animals develop RMS at an average of 86 days. Interval mapping identified the region betweenD2Mit37 (45 cM) and D2Mit102 (52.5 cM) as reaching statistical significance. This interval is estimated to be approximately 7.5 cM long.

Candidate genes mapping near Parms1 are Wt1 (58 cM), Rad51 (66.8 cM), and Pms1( this locus may actually be on mouse 1based on BLAT (March 2005). The Parms1 interval shows conserved synteny to human Chromosomes 2q31-q33, 11p11-p13, and 15q14-q15.

Suggestive linkage to RMS development was detected at 1.9 cM on mouse Chromosome 4 near D4Mit235, 0.68 cM on mouse Chromosome 6 near D6Mit138, 72 cM on mouse Chromosome 7 near D7Mit259, 52 cM onmouse Chromosome 9 near D9Mit35, and 71 cM on mouse Chromosome 13 near D13Mit151.

Original:  J:93364 Hahn H, et al., Genetic mapping of a Ptch1-associated rhabdomyosarcoma susceptibility locus on mouse chromosome 2. Genomics. 2004 Nov;84(5):853-8
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
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