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| Nomenclature |
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Symbol:
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Pax3Sp-2H
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Name:
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paired box gene 3;
splotch 2 Harwell
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MGI ID: |
MGI:1856293 |
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Synonyms: |
Sp2H |
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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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(C3H/HeH x 101/H)F1
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Intragenic deletion |
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Mutation details: A deletion of 32 nucleotides occurred in the gene that encodes from alanine 237 to threonine 248. This deletion removed part of the paired homeodomain of the protein and created a termination codon immediately downstream of alanine 237 resulting in a truncated protein that lacks its C-terminal half. Mutation was confirmed by Southern blots and both genomic- and RT- PCR. (J:2944)
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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:14096
Beechey CV et al.,
"Mutations at the Sp locus"
Mouse News Lett 1986;75():28
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All: |
25 reference(s)
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Analysis Tools
