Fubi1^DDY/Stm
QTL Variant Detail

Summary

• QTL variant: Fubi1^DDY/Stm
• Name: failure of ureteric bud invasion 1; DDY/Stm
• MGI ID: MGI:2385340
• QTL: Fubi1 Location: unknown Genetic Position: Chr2, cM position of peak correlated region/allele: 59.32 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: DDY/Stm

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers renal agenesis compared to NFS/N. (J:72981)
• Inheritance: Recessive

Notes

The Fubi1 locus exhibits low penetrance.

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

J:72981

A locus associated with failure of renal development, Fubi1 (failure of ureteric bud invasion 1), was mapped to mouse Chromosome 2 at approximately 65 cM. 39 (NFS/N x DDY/Stm)F1 x DDY/Stm backcross animals were screened for 52 markers with 75% coverage of the genome in the linkage analysis. Parental DDY/Stm is a substrain of DDY that exhibits renal agenesis in a recessively inherited manner with low penetrance. Parental strain NFS/N is wild type and does not exhibit any renal anomalies. The Fubi1 locus reaches a maximum chi-squared value = 16 at D2Mit63 (65.2 cM). Two candidate genes are located in this region, Wt1 and Fmn1. Sequence and expression analysis of Fmn1 did not detect any differences between DDY/Stm and NFS/N parental strains. Reciprocal congenics were created where a 40 cM region centered around Fubi1 from donor DDY/Stm was introgressed onto the genetic background of NFS/N, and vice versa, for 10 generations. Results showed that the DDY.NFS-Fubi1^DDY/Stm congenic did not develop renal abnormalities. Authors conclude Fubi1 is a modifier gene for at least 2 or more loci that contribute to the renal developmental pathway.

References

• Original: J:72981 Kamba T, et al., Failure of ureteric bud invasion : a new model of renal agenesis in mice. Am J Pathol. 2001 Dec;159(6):2347-53
• All: 1 reference(s)