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| Nomenclature |
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Symbol:
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Sox10Dom
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Name:
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SRY-box containing gene 10;
dominant megacolon
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MGI ID: |
MGI:1857401 |
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Synonyms: |
Dom |
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Gene:
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Sox10
Location:
Chr15:79154913-79164490 bp, - strand
Genetic Position: Chr15,
37.7 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6JLe
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Insertion of a guanine residue is predicted to result in a translational frame shift in the postulated ORF, replacing the putative activation domain with 99 novel amino acids ahead of a translational termination signal. Northern analysis using a Sox10 cDNA probe detected reduced amounts of transcript in E12.5 and E16.5 homozygous mutant embryos, compared to wild-type embryos (J:45117). An A32T transversion in the ORF is predicted to cause a substitution of glutamate by valine. Whole mount in situ hybridization studies of homozygous mutant E10.5 embryos did not detect Sox10 expression in cranial ganglia and nerves, detected reduced expression along motor nerves, and detected expression in the trunk neural crest-derived dorsal root ganglia. In situ hybridization studies did not detect expression in intestine of homozygous mutant E14.5 embryos. (J:47640). In situ hybridization studies of E11.5 homozygous mutant embryos detected reduced numbers of cells that express the mutant allele in dorsal root ganglia and along the spinal nerves (J:67383). (J:45117)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Genbank ID for this mutation: AF047389
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| References |
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Analysis Tools
