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Pax3Sp
Spontaneous Allele Detail
Nomenclature
Symbol: Pax3Sp
Name: paired box 3; splotch
MGI ID: MGI:1856173
Synonyms: Sp
Gene: Pax3  Location: Chr1:78101267-78197134 bp, - strand  Genetic Position: Chr1, 39.79 cM
Pax3Sp/+ and KitlSl/+

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsAn A to T transversion at the invariant 3' AG splice acceptor of intron 3 was identified in this allele. This mutation abrogates the normal splicing of intron 3, resulting in the generation of four aberrantly spliced mRNA transcripts. Two of these Pax-3 transcripts make use of cryptic 3' splice sites within the downstream exon, generating small deletions which disrupt the reading frame of the transcripts. A third aberrant splicing event results in the deletion of exon 4, while a fourth retains intron 3. These aberrantly spliced mRNA transcripts are not expected to result in functional Pax3 proteins. (J:3731)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 217 assay results
In Structures Affected by this Mutation: 21 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:  21 strains or lines available
References
Original:  J:120 Snell GD, et al., Linkage of loop-tail, leaden, splotch and fuzzy in the mouse. Heredity. 1954;8:271-273
All:  80 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory