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Allele : Pax3<Sp-Nag> paired box 3; splotch-Nag

Primary Identifier	MGI:6160243	Allele Type	Spontaneous
Attribute String	Not Specified	Gene	Pax3
Strain of Origin	C3.NSY-(D11Mit74-D11Mit229)/Rbrc	Is Recombinase	false
Is Wild Type	false

molecularNote

A G-to-A missense mutation was identified at coding nucleotide 186 in exon 2 (c.186G>A). This results in a methionine to isoleucine change at codon 62 (p.Met62Ile) in a highly conserved region among vertebrates.

mutations:
Single point mutation

synonyms:
dominant white spotting,
Dws,
Dws,
dominant white spotting

earliestPublication:
Ohno T, et al. (2017) A new missense mutation in the paired domain of the mouse Pax3 gene. Exp Anim 66(3):245-250

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

3 Publication categories

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