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Phka1I/FnLn
Spontaneous Allele Detail
Nomenclature
Symbol: Phka1I/FnLn
Name: phosphorylase kinase alpha 1; I/FnLn
MGI ID: MGI:4821260
Gene: Phka1  Location: ChrX:101557581-101687852 bp, - strand  Genetic Position: ChrX, 45.47 cM
Mutation
origin
Strain of Origin:  I/FnLn
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsAn insertion of a T residue after codon 429 results in a frameshift and premature termination 17 codons downstream which is only approximately one third of the normal protein length. Northern blot analysis reveals a great reduction of this transcript in muscle extracts. (J:15833)
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: 1 anatomical structures
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 Phka1 Mutation:  19 strains or lines available
References
Original:  J:37921 LYON JB Jr, et al., The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice. J Biol Chem. 1963 Jan;238:1-11
All:  5 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
01/12/2022
MGI 6.17
The Jackson Laboratory