Cdcs2^C3H/HeJBir
QTL Variant Detail

Summary

• QTL variant: Cdcs2^C3H/HeJBir
• Name: cytokine deficiency colitis susceptibility 2; C3H/HeJBir
• MGI ID: MGI:2159156
• QTL: Cdcs2 Location: Chr1:65892345-65892485 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 33.31 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C3H/HeJBir

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers colitis susceptibility compared to C57BL/6J. (J:72978)
• Inheritance: Other (see notes)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Cdcs2 exhibits additive inheritance and interacts with Cdcs1.

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

J:72978

Genome scan at a resolution of ^{20 cM was performed on 408 animals from a (C3Bir.129P2(B6)-Il10/Lt x B6.129P2-Il10tm1Cgn/Lt)F2 intercross to identify QTLs associated with colitis susceptibility. Il10-deficient parental strain C3Bir.129P2(B6)-Il10tm1Cgn/Lt is susceptible to colitis and develops severe lesions whereas the resistant B6.129P2-Il10tm1Cgn/Lt develops mild lesions. A major colitis susceptibility locus, Cdcs1 (cytokine deficiency colitis susceptibility 1), maps from 67 cM - 75 cM on mouse Chromosome 3 with a maximum LOD score of 26.5 at D3Mit348 for all colitis phenotypes. C3H/HeJBir-derived alleles confer additively inherited colitis susceptibility at Cdcs1. Fabp2, Egf, and Nfkb1 are candidate genes for Cdcs1. Cdcs2 maps to 32.8 cM on mouse Chromosome 1 with a LOD score of 4.3 at D1Mit156 in linkage to colon score, severity, and hyperplasia in the distal colon. Cdcs2 exhibits additive interactions with Cdcs1. C3H/HeJBir-derived alleles confer colitis susceptibility at Cdcs2. Casp8, Cd28, Cd152, and Icos are candidate genes for Cdcs2. Cdcs3 maps to 65 cM near D2Mit62 on mouse Chromosome 2 with C3H/HeJBir-derived alleles conferring recessively inherited susceptibility to colitis. Cdcs3 affects hyperplasia and ulceration in the distal colon. Candidate genes for Cdcs3 are Thbs1, B2m, Il1, and Pcna. Cdcs4 maps to 21 cM on mouse Chromosome 8 and is linked to cecum total score at D8Mit191. C57BL/6J-derived alleles confer colitis susceptibility at Cdcs4. Defcr, Scc8 and the Defb locus arecandidate genes for Cdcs4. Cdcs5 maps to 19 cM on mouse Chromosome 17 with C57BL/6J-derived alleles conferring recessive colitis susceptibility. Cdcs5 interacts epistatically with Cdcs4 and affects spleen/body weight ratio. Candidate genes for Cdcs5 are H2-Ea, C4, Slp, and Tnf. Cdcs6 maps from 32 cM - 50 cM on mouse Chromosome 18 with C57BL/6J-derived alleles conferring colitis susceptibility. Cdcs6 interacts with Cdcs1 and a locus at D8Mit94 (8 cM proximal to Cdcs4) to affect cecum hyperplasia. Candidate genes for Cdcs6 are Dcc and Apc.* Authors also list Mad2l1 and Mad4 as candidate genes for Cdcs6: the position of these genes as given in MGD are on mouse Chromosome 6 and mouse Chromosome 5, respectively. *}

References

• Original: J:72978 Farmer MA, et al., A major quantitative trait locus on chromosome 3 controls colitis severity in IL-10-deficient mice. Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13820-5
• All: 1 reference(s)