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Mc1rE-So4J
Spontaneous Allele Detail
Summary
Symbol: Mc1rE-So4J
Name: melanocortin 1 receptor; sombre 4 Jackson
MGI ID: MGI:5577146
Gene: Mc1r  Location: Chr8:124133846-124137483 bp, + strand  Genetic Position: Chr8, 72.1 cM
Alliance: Mc1rE-So4J page
Mc1rE-So4J/Mc1r+ on the left showing darkened tail and ears compared to wild-type sibling on the right

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  B6.129S7-Ldlrtm1Her/J
Mutation
description
Allele Type:    Spontaneous (Constitutively active)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous G-to-A change at chromosome 8 position 123,407,783 (GRCm38) results in the missense mutation p.E92K. (J:222308)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Mc1r Mutation:  44 strains or lines available
References
Original:  J:230486 Harris BS, et al., The sombre 4 Jackson mutation. MGI Direct Data Submission. 2016;
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory