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Pax3Sp-d
Spontaneous Allele Detail
Summary
Symbol: Pax3Sp-d
Name: paired box 3; delayed splotch
MGI ID: MGI:1856174
Synonyms: Pax3Spd, Spd, Splotch-delayed
Gene: Pax3  Location: Chr1:78077904-78173771 bp, - strand  Genetic Position: Chr1, 39.79 cM
Alliance: Pax3Sp-d page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation details: This mutation comprises a transversion mutation altering coding nucleotide 124 from a G to a C (c.124G>C), which results in a glycine to arginine substitution at position 42 of the protein (p.G42R). This position corresponds to the ninth amino acid of the paired domain. Northern blot analysis on RNA derived from homozygous mice demonstrated that mRNA levels were approximately 5 fold lower than wild-type. (J:13595)
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: 86 assay results
3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 8 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:  50 strains or lines available
References
Original:  J:238 Dickie MM, New Splotch alleles in the mouse. J Hered. 1964 May-Jun;55:97-101
All:  36 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory