TABLE 2.
SINGLE-NUCLEOTIDE POLYMORPHISMS IN MOUSE KIT
SNP | Location (Mbp) | Observed SNP | Allele 1 Frequency | Percentage of Phenotype | Region | Allele 1 | Allele 2 |
---|---|---|---|---|---|---|---|
rs37546426 | 75.969357 | C/T | 0.19 | 51.6 | 5′ L | IRF1/2 | YY1 |
rs36684666 | 75.969567 | C/T | 0.38 | 35.7 | 5′ L | Zeste | POU1F1a |
rs37967821 | 75.969778 | C/T | 0.21 | 53.2 | 5′ L | MYB1 | Dfb (Hoxb4) |
rs38970347 | 75.970285 | T/A | 0.21 | 53.2 | 5′ L | No RAF | RAF |
rs36956723 | 75.970368 | C/T | 0.38 | 35.7 | 5′ L | ETF, Sp1 | CACCC-binding factor |
rs37998535 | 75.970867 | C/G | 0.19 | 51.6 | 5′ L | NF-1 | C/EBPα |
rs36929749 | 75.971053 | C/T | 0.19 | 51.6 | 5′ UTR | T-Ag | No T-Ag |
rs36972615 | 76.049338 | G/C | 0.19 | 51.6 | CN | Asp 927 | Glu 927 |
rs36331951 | 76.050775 | A/G | 0.21 | 53.2 | 3′ UTR | A | G |
rs29630739 | 76.051098 | A/G | 0.28 | 45.0 | 3′ UTR | A | G |
rs33755426 | 76.051115 | G/A | 0.28 | 45.0 | 3′ UTR | G | A |
rs13469910 | 76.051946 | C/T | 0.28 | 45.0 | 3′ UTR | C | T |
rs36266306 | 76.052269 | A/G | 0.19 | 51.6 | 3′ UTR | G | A |
rs36248044 | 76.052312 | A/G | 0.21 | 53.2 | 3′ L | G | A |
rs37033324 | 76.052937 | A/G | 0.19 | 51.6 | 3′ L | A | G |
Notes: SNP = reference single-nucleotide polymorphism identification number; Location (Mbp) = location on mouse chromosome 5 in megabase pairs (build 37); Observed SNP = base pair substitution with minor (allele 1) listed first; Allele 1 Frequency = the ratio of mice in the total population (n = 213) that have allele 1; Percentage of Phenotype = a comparison of the mean static compliance (Cl) of mice with allele 1 to that of allele 2 divided by the maximum difference between the polar strains (NZW/LacJ vs. CZECH/EiJ) × 100, based on alleles assigned by the Mouse Phenome Database (http://www.jax.org/phenome); Region = location near (L) or within (CN = nonsynonymous) the gene, including the untranslated region (UTR); Allele 1 = the possible consequence of the minor allele as determined by the Transcription Element Search System (30) for the 5′ region, in the coding sequence, or in the 3′ UTR. Allele 2 = major allele. The predicted transcriptional binding site use the TRANSFAC abbreviation.