Pax3<Sp> Spontaneous Allele Detail MGI Mouse (MGI:1856173)

Pax3^Sp
Spontaneous Allele Detail

Summary

Symbol:	Pax3^Sp
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:	Pax3^Sp page

Pax3^Sp/+ and Kitl^Sl/+

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 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

Phenotypes

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

Expression

In Mice Carrying this Mutation:	272 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	17 anatomical structure(s)

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:	50 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(2):271-273
All:	81 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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