Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Pax3Sp Name: paired box 3; splotch MGI ID: MGI:1856173 Synonyms: Sp Gene: Pax3  Location: Chr1:78077904-78173771 bp, - strand  Genetic Position: Chr1, 39.79 cM Alliance: Pax3Sp page

Pax3Sp/+ and KitlSl/+ Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

C57BL

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: The 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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	269 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	17 anatomical structure(s)

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:	50 strains or lines available

Original:	J:120 Snell GD, et al., Linkage of loop-tail, leaden, splotch and fuzzy in the mouse. Heredity. 1954;8(2):271-273
All:	81 reference(s)