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| Nomenclature |
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Symbol:
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Pax3Sp-d
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Name:
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paired box gene 3;
delayed splotch
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MGI ID: |
MGI:1856174 |
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Synonyms: |
Spd |
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Gene:
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Pax3
Location:
Chr1:78101267-78197134 bp, - strand
Genetic Position: Chr1,
39.79 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: This mutation comprises a transversion mutation altering nucleotide 421 from a G to a C results in a glycine to arginine substitution at position 42 of the protein. This position corresponds to the ninth amino acid of the paired domain. Northern blot analysis on RNA derived from homozygous mice demonstrated that mRNA levels were approximately 5 fold lower than wild-type. (J:13595)
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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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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:238
Dickie MM,
"New Splotch alleles in the mouse"
J Hered 1964 May-Jun;55():97-101
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All: |
24 reference(s)
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Analysis Tools
