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| Nomenclature |
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Symbol:
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Hps6ru-6J
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Name:
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Hermansky-Pudlak syndrome 6;
ruby-eye 6 Jackson
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MGI ID: |
MGI:1856410 |
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Synonyms: |
ru6J |
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Gene:
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Hps6
Location:
Chr19:46003478-46006173 bp, + strand
Genetic Position: Chr19,
38.75 cM
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Mutation
origin |
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Strain of Origin:
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C3H/HeJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: An intracisternal A particle (IAP) approximately 5.3 kb in length was identified at codon 108. Northern blot analysis indicated highly reduced expression in kidney tissue. (J:81444)
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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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Notes |
ru6J, ruby-eye 6J, recessive. Arising in the C3H/HeJ strain, this mutation was proven to be an Hps6 remutation by complementation test. DNA and embryos will be preserved (J:29157).
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| References |
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Original: |
J:29157
Cook S,
"Spontaneous remutation (ru<6J>)"
Mouse Genome 1995;93(3):862
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All: |
3 reference(s)
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Analysis Tools
