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Hk1dea
Spontaneous Allele Detail
Summary
Symbol: Hk1dea
Name: hexokinase 1; downeast anemia
MGI ID: MGI:2151848
Synonyms: dea
Gene: Hk1  Location: Chr10:62104634-62215687 bp, - strand  Genetic Position: Chr10, 32.37 cM
Alliance: Hk1dea page
Mutation
origin
Strain of Origin:  A/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsA 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)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hk1 Mutation:  56 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory