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Pax3Sp-d
Spontaneous Allele Detail
Nomenclature
Symbol: Pax3Sp-d
Name: paired box 3; delayed splotch
MGI ID: MGI:1856174
Synonyms: Spd
Gene: Pax3  Location: Chr1:78101267-78197134 bp, - strand  Genetic Position: Chr1, 39.79 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis 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)
Inheritance:    Semidominant
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 45 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:  24 strains or lines available
References
Original:  J:238 Dickie MM, New Splotch alleles in the mouse. J Hered. 1964 May-Jun;55:97-101
All:  26 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
05/20/2015
MGI 5.22
The Jackson Laboratory