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Pax3Sp-1Wli
Chemically induced Allele Detail
Summary
Symbol: Pax3Sp-1Wli
Name: paired box 3; splotch 1 Wei Li
MGI ID: MGI:5523956
Synonyms: Pax3wbs
Gene: Pax3  Location: Chr1:78077904-78173771 bp, - strand  Genetic Position: Chr1, 39.79 cM
Alliance: Pax3Sp-1Wli page
Mutation
origin
Strain of Origin:  C57BL/6J or CBA/CaJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsENU mutagenesis induced a nonsense mutation that results in the amino acid substitution of a stop codon for lysine at position 107 (K107X). Western blot analysis confirmed the absence of protein expression in E10.5 embryos. (J:196572)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:  50 strains or lines available
References
Original:  J:196572 Guo XL, et al., Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. Pigment Cell Melanoma Res. 2010 Apr;23(2):252-62
All:  1 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
03/19/2024
MGI 6.23
The Jackson Laboratory