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| Nomenclature |
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Symbol:
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Hps3coa
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Name:
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Hermansky-Pudlak syndrome 3 homolog (human);
cocoa
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MGI ID: |
MGI:1856707 |
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Synonyms: |
co, coa |
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Gene:
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Hps3
Location:
Chr3:19995945-20035315 bp, - strand
Genetic Position: Chr3,
6.12 cM
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Hps6ru-2J/ Hps6ru-2J and Hps3coa/ Hps3coa
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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C57BL/10J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A to T substitution in the 3' splice site of the gene. A cryptic splice site is utilized within exon 15, which results in a frameshift. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals.
(J:72606)
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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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| References |
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Analysis Tools
