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Spontaneous Allele Detail
Symbol: Hk1dea
Name: hexokinase 1; downeast anemia
MGI ID: MGI:2151848
Synonyms: dea
Gene: Hk1  Location: Chr10:62268855-62379908 bp, - strand  Genetic Position: Chr10, 32.37 cM
Strain of Origin:  A/J
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
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  21 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory