Confirmed ENU–induced mutations that are potentially causative for the abnormal phenotype in each line.
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The average amount of sequence obtained for each mutant was 80% of the 7.8Mb (one-fourth) of the 34 Mb region containing exons of annotated genes. The mouse gene symbol is shown. Location of lesion indicated by e (exon), i (intron), 5U (5′ UTR), 3U (3′ UTR), u (upstream), or d (downstream). No lesions were found in the mutant lines crf05, inf4, gro40, l11Jus38, l11Jus45, nur01, nur05, and skc1. Lesions were identified in the mutant lines crf06 and l11Jus39 that confirmed in some, but not all of the samples, indicating that the lesion was not causative of the phenotype, so these mutants are not included in the table.
*Number refers to nucleotide position within entire genomic sequence from Ensembl v52.
**Number refers to amino acid position within the first protein coding transcript in Ensembl v52.
†SNAP analysis was used to determine the likelihood of an amino acid change being deleterious to the protein. The resulting classification is shown as Neutral or non-Neutral, along with the reliability index on a scale from 0 to 9, with 9 being the most reliable prediction, and finally, the predicted accuracy, shown as a percentage. This analysis is based on human sequence, so may not be as reliable for the mouse.
1Kile et al. [5].
2Clark et al. [56].
3Hentges et al. [16].
4Stat3 is not the causative lesion because l11Jus14 maps to the Mpo-Chad interval and Stat3 is outside this interval.
5Associated with mutation in human gene MPDU1, OMIM 6040410.
6Associated with mouse mutant MGI 106613.
7Associated with mutation in human gene PLEKHM1, OMIM 611466, and a rat mutation, MGI 2443207.
8Associated with mouse mutant MGI 1858204.
9Associated with mutations in human gene STAT3, OMIM 147060, and mouse mutant MGI 103038.
10Associated with mouse mutation MGI 2135679.
11Associated with mutations in human gene SLC4A1, OMIM109240, and mouse mutant, MGI 109393.
12Associated with mutation in human gene AIPL1 OMIM 604393.
13Associated with mutation of human gene NF1, OMIM 601321, OMIM 607785, and mouse mutant MGI 97306.
14Associated with mutation in human gene ASPA, OMIM 271900.
创建时间:
2009-12-11



