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MitfMi-b
Spontaneous Allele Detail
Summary
Symbol: MitfMi-b
Name: melanogenesis associated transcription factor; microphthalmia brownish
MGI ID: MGI:1856086
Gene: Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
Alliance: MitfMi-b page
Mutation
origin
Strain of Origin:  T stock x (101/Rl x C3H/Rl)F1
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsG-to-A transition leading to a p.Gly244Glu substitution in the encoded protein. This amino acid is in helix 2 of the HLH dimerization domain. (J:37067)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 9 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Mitf Mutation:  74 strains or lines available
References
Original:  J:15061 Larsen M, Microphthalmia-brownish, Mib. Mouse News Lett. 1966;34:41
All:  5 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