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Pax3Sp-2H
Radiation induced Allele Detail
Nomenclature
Symbol: Pax3Sp-2H
Name: paired box 3; splotch 2 Harwell
MGI ID: MGI:1856293
Synonyms: Sp2H
Gene: Pax3  Location: Chr1:78101267-78197134 bp, - strand  Genetic Position: Chr1, 39.79 cM
Mutation
origin
Strain of Origin:  (C3H/HeH x 101/H)F1
Mutation
description
Allele Type:    Radiation induced
Mutation:    Intragenic deletion
 
Mutation detailsA 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)
Inheritance:    Semidominant
Phenotypes
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Disease models
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Expression
In Mice Carrying this Mutation: 153 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:  24 strains or lines available
References
Original:  J:14096 Beechey CV, et al., Mutations at the Sp locus. Mouse News Lett. 1986;75:28
All:  25 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory