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| Nomenclature |
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Symbol:
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Mitftm4.1Arnh
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Name:
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microphthalmia-associated transcription factor;
targeted mutation 4.1, Heinz Arnheiter
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MGI ID: |
MGI:5050701 |
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Synonyms: |
Mitfmi-S-73SdeltaNeo |
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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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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The targeted mutation modified the splice donor for exon 2B so that it became non functional but did not modify any of the encoded amino acids. The amino acid encoded for codon 73 is Ser. A floxed neomycin selection cassette was inserted as well. The selection cassette was subsequently removed by cre excision. This allele forcibly includes exon 2B as it can no longer be alternatively spliced. (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
