About   Help   FAQ
Phka1I/FnLn
Spontaneous Allele Detail
Summary
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
Alliance: Phka1I/FnLn page
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  18 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory