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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 detailsThe mutation comprises the replacement of TCTCCA with CGTGT at the 3' end of intron 3. Since the CA dinucleotide at the end is part of the exon 4 CAG splice acceptor site, this splice site is eliminated in this allele, having been changed to GTG. 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: 239 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
08/04/2020
MGI 6.15
The Jackson Laboratory