Moen3^C57BL/6
QTL Variant Detail

Summary

• QTL variant: Moen3^C57BL/6
• Name: modifier of engrailed QTL 3; C57BL/6
• MGI ID: MGI:3715508
• QTL: Moen3 Location: Chr12:46801584-46801733 bp Genetic Position: Chr12, cM position of peak correlated region/allele: 21.48 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: This allele protects against En1^tm1Alj-induced cerebellar developmental failure compared to 129S1/Sv. (J:120598)
• Inheritance: Recessive

Notes

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

J:120598

Homozygosity for En1^tm1Alj on a 129S1/Sv genetic background results in cerebellar developmental failure whereas homozygosity for En1^tm1Alj on a C57BL/6 background results in relatively normal cerebellar development. Genetic modifiers of the En1^tm1Alj mutation were mapped in 107 homozygous mutant (C57BL/6-En1^tm1Alj x 129S1/Sv)F1 x C57BL/6-En1^tm1Alj backcross animals. Eighty-three polymorphic markers at a 20 cM resolution on chromosomes 2 through 19 were used for the genome scan. Chromosome 1 markers were not used because En1 islinked to that chromosome.

Significant linkage mapped to 20 cM on mouse Chromosome 18 (Moen1; LRS=11.4 at D18Mit177) and 34 cM on mouse Chromosome 19 (Moen2; LRS=9.4 at D19Mit88). Controlling for Moen1 and Moen2 detecteda third locus at 24 cM on mouse Chromosome 12 designated Moen3 (LRS=7.2 at D12Mit112). The recessive 3-locus model attains statistical significance of LOD=5.76, with all 3 QTLs contributing equally. Parent-of-origin and gender appear to influence Moen1,Moen2, and Moen3. C57BL/6-derived alleles promote normal cerebellar development in homozygous En1^tm1Alj mutant animals.

A potential candidate gene for Moen1 on chromosome 18 is Spry4 (18 cM). Potential candidate genes for Moen2 on chromosome 19 includeFoxd4 (17.5 cM) and Pten (24.5 cM). Potential candidate genes for Moen3 on chromosome 12 include Foxa1 (26 cM), Pax9 (26 cM), Nrcam (22 cM), and Twist1 (16 cM).

A total of 173 homozygous En1^tm1Alj animals from a (C57BL/6-En1^tm1Alj x 129S1/Sv)F2 intercross population were also screened for dominant modifiers of En1^tm1Alj. Suggestive linkages mapped to mouse Chromosomes 10 (D10Mit152, D10Mit2, D10Mit162) and 11 (D11Mit167).

References

• Original: J:120598 Murcia CL, et al., A genetic study of the suppressors of the Engrailed-1 cerebellar phenotype. Brain Res. 2007 Apr 6;1140:170-8
• All: 1 reference(s)