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| Nomenclature |
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Symbol:
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Hk1dea
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Name:
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hexokinase 1;
downeast anemia
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MGI ID: |
MGI:2151848 |
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Synonyms: |
dea |
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Gene:
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Hk1
Location:
Chr10:62268855-62379908 bp, - strand
Genetic Position: Chr10,
32.37 cM
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Mutation
origin |
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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: A spontaneous insertion of an early transposon sequence (ETn) in intron 4 of the gene was detected by Southern blot analysis and by sequencing. Northern blot analysis on RNA derived from spleen tissue of homozygous mice did not detect a wild-type size transcript, but trace amounts of a larger transcript were detected. Reduced hexokinase activity was shown functionally in red blood cells, spleen and kidney. (J:72146)
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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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Original: |
J:72146
Peters LL et al.,
"Downeast Anemia (dea), a New Mouse Model of Severe Nonspherocytic Hemolytic Anemia Caused by Hexokinase (HK(I)) Deficiency."
Blood Cells Mol Dis 2001 Sep-Oct;27(5):850-60
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All: |
1 reference(s)
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Analysis Tools
