B6.Cg-Pax3^Sp N/J

Stock number: 000311
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research

Description

These mice carry two spontaneous mutations, Pax3^Sp (splotch) and N (naked). Splotch mice are characterized by malformations of homozygous mutant embryos, including neural tube defects, and serve as a model for studying molecular and environmental contributions to spina bifida.

Detailed description

Mice homozygous for the splotch spontaneous mutation (Pax3^Sp) die at E13 due to neural tube defects. Malformations of homozygous mutant embryos include rachischisis in the lumbosacral region and frequently in the region of the hindbrain. Heterozygous splotch mice show white spotting on the belly and occasionally on the back, feet, and tail. There are multiple alleles at this locus including splotch-delayed (Pax3^Sp-d, Stock No. 000565), which is similar to splotch but displays caudal rachischisis only. This C57BL/6 congenic strain is also carrying the semidominant naked spontaneous mutation (N).

Development

Embryos produced by mating males heterozygous for both Pax3^Sp and N to C57BL/6J females were cryopreserved in 1982.

Allele

Symbol: Pax3^Sp
Name: splotch
MGI accession ID: MGI:1856173
Generation method: Spontaneous
Synonyms: Sp
Marker symbol: Pax3
Marker name: paired box 3
Chromosome: 1
Strain of origin: C57BL
Molecular note: 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.

Allele

Symbol: N
Name: naked
MGI accession ID: MGI:1861361
Generation method: Spontaneous
Marker symbol: N
Marker name: naked
Chromosome: 15
Strain of origin: Not Specified
General note: Arose as a spontaneous mutation in a stock at the Latvian University of Riga (J:14939).