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Pklrslc
Spontaneous Allele Detail
Summary
Symbol: Pklrslc
Name: pyruvate kinase liver and red blood cell; pyruvate kinase deficiency
MGI ID: MGI:1856522
Synonyms: PK-1sk, PklrG338D
Gene: Pklr  Location: Chr3:89043449-89054091 bp, + strand  Genetic Position: Chr3, 39.01 cM
Alliance: Pklrslc page
Mutation
origin
Strain of Origin:  CBA/NSlc
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsMice 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  24 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory