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Mitfmi-enu122
Chemically induced Allele Detail
Nomenclature
Symbol: Mitfmi-enu122
Name: microphthalmia-associated transcription factor; microphthalmia enu 122
MGI ID: MGI:1857751
Synonyms: ENU-122
Gene: Mitf  Location: Chr6:97807058-98021349 bp, + strand  Genetic Position: Chr6, 45.05 cM
Mitfmi-enu122/Mitfmi-enu122 mouse

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

Mutation
origin
Strain of Origin:  (102 x C3H)F1
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA to T transversion at position 799 of the cDNA, leading to an isoleucine to phenylalanine substitution at conserved amino acid 224 in the HLH region of the encoded protein. (J:46254)
Inheritance:    Recessive
Phenotypes
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Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mitf Mutation:  44 strains or lines available
References
Original:  J:46254 Steingrimsson E, et al., Mitfmi-enu122 is a missense mutation in the HLH dimerization domain. Mamm Genome. 1998 Mar;9(3):250-2
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory