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| Nomenclature |
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Symbol:
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Hsf4ldis1
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Name:
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heat shock transcription factor 4;
lens disruptor 1
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MGI ID: |
MGI:3056560 |
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Synonyms: |
Hsf4lop11, lens opacity locus 11, lop11 |
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Gene:
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Hsf4
Location:
Chr8:105269801-105275845 bp, + strand
Genetic Position: Chr8,
53.04 cM, cytoband D1
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Mutation
origin |
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Strain of Origin:
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RIIIS/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: A 5542 bp early transposablle element (Y17106) is inserted 61 bp upstream of the 5' intron/exon junction of exon 10 but in intron 9. The resulting protein migrated in western blots as a 40KDa band rather than the normal 55KDa size, indicating a truncated protein. The loss of 132 amino acids from the COOH-terminus results in the failure of trimer formation. (J:124225)
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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 Hsf4 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:93209
Jablonski MM et al.,
"The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1."
Mol Vis 2004 Aug 23;10():577-87
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All: |
4 reference(s)
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Analysis Tools
