Hk1^dea
Spontaneous Allele Detail

Summary

• Symbol: Hk1^dea
• 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: Hk1^dea page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• 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)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 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: 57 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)