Coro1a^{Lmb3-C57BL/6Scr}
QTL Variant Detail

Summary

• QTL variant: Coro1a^{Lmb3-C57BL/6Scr}
• Name: coronin, actin binding protein 1A; C57BL/6Scr
• MGI ID: MGI:2156815
• QTL: Coro1a Location: Chr7:126298946-126303925 bp, - strand Genetic Position: Chr7, 69.25 cM, cytoband F3

Variant origin

• Strain of Specimen: C57BL/6

Variant description

• Allele Type: QTL
• Mutation: Single point mutation
• Mutation details: A single C to T transition is found at position 784 which causes the conversion of glutamine at that residue to a stop codon (Q262X). mRNA expression is increased but the protein product is undetectable by immunoblotting.
• Inheritance: Not Specified

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Notes

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

J:45708

In a (MRL-Tnfrsf6^lpr x C57BL/6-Tnfrsf6^lpr)F1 cross involving 274 F2 progeny a quantitative trait locus, Lmb3, identifying lymphadenopathy and/or splenomegaly was significantly associated with a region of mouse Chromosome 7 flanked by markers D7Mit82 and D7Nds1. The highest LOD scores were associated with D7Mit211.

J:66460

(BALB/cCrl x DBA/2Crl)F2 animals were screened for 106 polymorphic markers on 19 autosomes at an average marker spacing of 15 cM (94% coverage of genome) to identify QTLs associated with rheumatoid arthritis (RA) phenotypes (autoantibody production and inflammation). Parental inbred strain BALB/cCrl is susceptible to RA when immunized with cartilage proteoglycan whereas DBA/2Crl is resistant to RA. (BALB/cCrl x DBA/2Crl)F1 animals exhibit arthritis resistance similar to parental strain DBA/2Crl. 12 Pgia (proteoglycan induced arthritis) QTLs were identified. Pgia1 affects autoantibody production and maps to mouse Chromosome 1 at 24 cM in linkage with D1Mit170 (LOD = 4.3). Pgia2 affects autoantibody production and maps to mouse chromosome 2 at 80 cM in linkage with D2Mit166 (LOD = 11.1). Pgia3 affects autoantibody production and inflammation and maps to mouse Chromosome 7 at 40 cM in linkage with D7Mit62 (LOD = 5.3). Pgia3 maps near Lmb3, a QTL associated with Lupus in MRL and C57BL/6 F2 mice. Pgia4 affects autoantibody production and maps to mouse Chromosome 8 at 16 cM in linkage with D8Mit224 (LOD = 18.9). Pgia5 affects inflammation and maps to mouse Chromosome 9 at 36 cM in linkage to D9Mit104 (LOD = 10.1). Pgia6 affects autoantibody production and mapsto mouse Chromosome 10 at 16 cM in linkage to D10Mit282 (LOD = 7.1). Pgia7 affects autoantibody production and maps to mouse Chromosome 11 at 34 cM in linkage to D11Mit90 (LOD = 16). Pgia8 and Pgia9 both affect inflammation and map to mouse Chromosome 15at 20 cM (LOD = 8.4 at D15Mit7) and 41 cM (LOD = 6 at D15Mit41), respectively. Pgia8 maps near Eae2, a QTL associated with experimentally induced allergic encephalomyelitis. Pgia10 affects autoantibody production and inflammation and maps to mouse Chromosome 16 at 66 cM in linkage to D16Mit152 (LOD = 8.0). Pgia11 affects autoantibody production and maps to mouse Chromosome 18 at 50 cM in linkage to D18Mit80 (LOD = 11.9). Pgia12 affects inflammation and maps to mouse Chromosome 19 at 54 cM in linkage to D19Mit71 (LOD = 8).

J:108420

Linkage analysis was performed on 420 female animals from a (C57BL/6Slc x SCG/Knj)F2 intercross to identify QTL for renal phenotypes. Parental strain SCG/Knj is derived from BXSB/Mp and MRL/Mp-Fas^lpr, and spontaneously develops crescentic glomerulonephritis and vascularitis. The Fas-^lpr mutation is largely responsible for the disease phenotype but this experiment seeks to identify non-Fas disease-associated loci. 102 polymorphic markers covering 85% of the genome at a 20 cM resolution was used for the genome scan. F2 animals were analyzed by cohorts grouped according to genotype at the Fas locus.

Scgq4 (spontaneous crescentic glomerulonephritis QTL 4) maps to mouse Chromosome 7 near D7Mit117 (11 cM) and D7Mit80 (18 cM) with LOD=5.4 for total serum IgM at 12 weeks of age. SCG/Knj-derived alleles at Scgq4 confer increased IgM with a recessive mode of inheritance. This locus accounts for 11% of the phenotypic variance. Previously identified renal QTL mapping near Scgq4 include Sle3 (15 cM), Lbw5 (23 cM),Nba5 (23 cM), and Lmb3 (28 cM). Cd22 (9 cM) and Bax (23 cM) are possible candidate genes for Scgq4.

References

• Original: J:45708 Vidal S, et al., Loci predisposing to autoimmunity in MRL-Fas lpr and C57BL/6-Faslpr mice. J Clin Invest. 1998 Feb 1;101(3):696-702
• All: 4 reference(s)