Jckm2^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Jckm2^C57BL/6J
• Name: juvenile cystic kidney modifier 2; C57BL/6J
• MGI ID: MGI:3027508
• Synonyms: Pkdm1
• QTL: Jckm2 Location: Chr1:74991977-133290937 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 57.91 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Inheritance: Not Specified

Notes

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

J:23893

Jckm2 was mapped between D1Mit7 and D1Mit30 on mouse Chromosome 1 using 55 F2 progeny from the (C57BL/6J x DBA/2J)F1 jck/+ intercross and quantitative trait locus analysis. The LOD score given for placing Jckm2 in the region between D1Mit7 and D1Mit30 is>16.

J:43909

(C57BL/6J x DBA/2J)F2-jck/+ intercross animals were used to map QTLs that modify the severity of polycystic kidney disease (PKD). The parental C57BL/6J strain used in this cross carries a homozygous mutation in the jck gene resulting in enhanced PKD phenotype (increased kidney weight). DBA/2J is wild type at the jck locus and exhibits a mild PKD phenotype. Jckm1 (juvenile cystic kidney modifier 1) mapped to chromosome 10 with a peak LOD score of 2.1 between D10Mit14 (65 cM) and D10Mit102 (69 cM). DBA/2J-derived alleles at this locus appear to increase PKD severity in an additive fashion. Jckm2 mapped to chromosome 1 with a peak LOD score of 16.8 between D1Mit7 (41 cM) and D1Mit30 (70 cM). C57BL/6J-derived alleles confer recessively inherited susceptibility to PKD at this locus. There appears to be strain-specific interactions between Jckm1 and Jckm2: animals homozygous for C57BL/6J-like alleles at Jckm2 and homozygous for DBA/2J-like alleles at Jckm1 develop severe PKD.

References

• Original: J:23893 Iakoubova OA, et al., Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics. 1995 Mar 1;26(1):107-14
• All: 3 reference(s)