Summary |
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Variant origin |
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Variant description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:120598Homozygosity for En1tm1Alj on a 129S1/Sv genetic background results in cerebellar developmental failure whereas homozygosity for En1tm1Alj on a C57BL/6 background results in relatively normal cerebellar development. Genetic modifiers of the En1tm1Alj mutation were mapped in 107 homozygous mutant (C57BL/6-En1tm1Alj x 129S1/Sv)F1 x C57BL/6-En1tm1Alj 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 En1tm1Alj 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 En1tm1Alj animals from a (C57BL/6-En1tm1Alj x 129S1/Sv)F2 intercross population were also screened for dominant modifiers of En1tm1Alj. Suggestive linkages mapped to mouse Chromosomes 10 (D10Mit152, D10Mit2, D10Mit162) and 11 (D11Mit167). |
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References |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 10/29/2024 MGI 6.24 |
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