Pklr^char4
Spontaneous Allele Detail

Summary

• Symbol: Pklr^char4
• Name: pyruvate kinase liver and red blood cell; char4
• MGI ID: MGI:3027066
• Synonyms: Pklr^269A, Pklr^I90N
• Gene: Pklr Location: Chr3:89043449-89054091 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Pklr^char4 page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous mutation was observed in 2 recombinant congenic strains carrying susceptibility alleles for malaria resistance QTL Char1 and Char2. A point mutation has occurred changing base 269 from T to A. This results in an amino acid change at residue 90 from isoleucine to asparagine. The identical I to N mutation has been described in a human case of pyruvate kinase deficiency. (J:86735)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pklr Mutation: 25 strains or lines available

References

• Original: J:86735 Min-Oo G, et al., Pyruvate kinase deficiency in mice protects against malaria. Nat Genet. 2003 Dec;35(4):357-62
• All: 5 reference(s)