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Allele : Pklr<slc> pyruvate kinase liver and red blood cell; pyruvate kinase deficiency

Primary Identifier	MGI:1856522	Allele Type	Spontaneous
Gene	Pklr	Inheritance Mode	Recessive
Strain of Origin	CBA/NSlc	Is Recombinase	false
Is Wild Type	false

molecularNote

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).

mutations:
Single point mutation

synonyms:
Pklr<G338D>,
PK-1<sk>,
Pklr<G338D>,
PK-1<sk>

earliestPublication:
Kanno H, et al. (1995) Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain. Blood 86(8):3205-10

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

11 Publication categories

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