Phka1^I/FnLn
Spontaneous Allele Detail

Summary

• Symbol: Phka1^I/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: Phka1^I/FnLn page

Mutation origin

• Strain of Origin: I/FnLn

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: An 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

Disease models

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)