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| Nomenclature |
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Symbol:
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Mitftm7Arnh
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Name:
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microphthalmia-associated transcription factor;
targeted mutation 7, Heinz Arnheiter
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MGI ID: |
MGI:5050706 |
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Synonyms: |
Mitfmi-S73ANeo |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:182722
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Parent Cell Line:
| LC3 (ES Cell) |
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Strain of Origin:
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(C57BL/6N x 129S6/SvEvTac)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: The targeted mutation was within exon 2B to change the coding sequence for amino acid 73 from serine to alanine (S73A) and a silent nucleotide change 10bp upstream to generate a diagnostic restriction site. A floxed neomycin selection cassette was also inserted into intron 2. (J:182722)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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:182722
Debbache J et al.,
"In vivo Role of Alternative Splicing and Serine Phosphorylation of the Microphthalmia-associated Transcription Factor MITF."
Genetics 2012 Feb 23;():
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All: |
1 reference(s)
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Analysis Tools
