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Allele : Mc1r<E-so3J> melanocortin 1 receptor; sombre 3 Jackson

Primary Identifier	MGI:1856364	Allele Type	Spontaneous
Attribute String	Constitutively active	Gene	Mc1r
Inheritance Mode	Semidominant	Strain of Origin	CBA/J
Is Recombinase	false	Is Wild Type	false

molecularNote

A G-to-A mutation in codon 92 results in a glutamic acid to lysine alteration at this position (p.E92K), causing the gene to be constitutively activated.

mutations:
Single point mutation

synonyms:
E<so-3J>,
E<so-3J>

earliestPublication:
Robbins LS, et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72(6):827-34

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

3 Publication categories

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