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| Nomenclature |
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Symbol:
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Mitfmi-enu122
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Name:
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microphthalmia-associated transcription factor;
microphthalmia enu 122
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MGI ID: |
MGI:1857751 |
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Synonyms: |
ENU-122 |
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Gene:
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Mitf
Location:
Chr6:97807058-98021349 bp, + strand
Genetic Position: Chr6,
45.05 cM
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Mitfmi-enu122/Mitfmi-enu122 mouse
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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(102 x C3H)F1
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mitf Mutation:
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41 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
