Pklr^slc
Spontaneous Allele Detail

Summary

• Symbol: Pklr^slc
• Name: pyruvate kinase liver and red blood cell; pyruvate kinase deficiency
• MGI ID: MGI:1856522
• Synonyms: PK-1^sk, Pklr^G338D
• Gene: Pklr Location: Chr3:89043449-89054091 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Pklr^slc page

Mutation origin

• Strain of Origin: CBA/NSlc

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Mice exhibit a point mutation G-to-A at coding nucleotide 1013 in exon 7 that results in the substitution of glycine with aspartic acid at position 338 (p.G338D).
• 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:29199 Kanno H, et al., Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain. Blood. 1995 Oct 15;86(8):3205-10
• All: 10 reference(s)