Pax3^Sp-d
Spontaneous Allele Detail

Summary

• Symbol: Pax3^Sp-d
• Name: paired box 3; delayed splotch
• MGI ID: MGI:1856174
• Synonyms: Pax3^Spd, Sp^d, Splotch-delayed
• Gene: Pax3 Location: Chr1:78077904-78173771 bp, - strand Genetic Position: Chr1, 39.79 cM
• Alliance: Pax3^Sp-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

Disease models

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)