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| Nomenclature |
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Symbol:
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Phka1I/FnLn
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Name:
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phosphorylase kinase alpha 1;
I/FnLn
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MGI ID: |
MGI:4821260 |
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Gene:
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Phka1
Location:
ChrX:102513975-102644246 bp, - strand
Genetic Position: ChrX,
45.47 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
