Phenotypes associated with this allele

• Allele Symbol: Phka1^I/FnLn
• Allele Name: I/FnLn
• Allele ID: MGI:4821260
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phka1^I/FnLn/Phka1^I/FnLn	I/FnLn	MGI:4821261
ht2	Phka1^I/FnLn/Phka1^+	(C57BL/FnLn x I/FnLn)F1	MGI:4821270
ht3	Phka1^I/FnLn/Phka1^+	(I/FnLn x C57BL/FnLn)F1	MGI:4821272
ot4	Phka1^I/FnLn/Y	(I/FnLn x C57BL/FnLn)F1	MGI:4821273
ot5	Phka1^I/FnLn/Y	I/FnLn	MGI:4821274

Genotype
MGI:4821261

hm1

• Allelic Composition: Phka1^I/FnLn/Phka1^I/FnLn
• Genetic Background: I/FnLn

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is two to three fold higher than that in C57BL/FnLn controls, with a mean of 11.5mg/g tissue versus 4.4mg/g, and epinephrine does not induce phosphorylase kinase activity

muscle

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is two to three fold higher than that in C57BL/FnLn controls, with a mean of 11.5mg/g tissue versus 4.4mg/g, and epinephrine does not induce phosphorylase kinase activity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IXd		DOID:0111040	OMIM:300559	J:42850

Genotype
MGI:4821270

ht2

• Allelic Composition: Phka1^I/FnLn/Phka1⁺
• Genetic Background: (C57BL/FnLn x I/FnLn)F1

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is slightly higher than that in C57BL/FnLn or (C57BL/FnLn x I/FnLn)F1 wild-type male controls, with a mean of 5.2mg/g rather than 4.4mg/g

muscle

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is slightly higher than that in C57BL/FnLn or (C57BL/FnLn x I/FnLn)F1 wild-type male controls, with a mean of 5.2mg/g rather than 4.4mg/g

Genotype
MGI:4821272

ht3

• Allelic Composition: Phka1^I/FnLn/Phka1⁺
• Genetic Background: (I/FnLn x C57BL/FnLn)F1

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is slightly higher than that in C57BL/FnLn or (C57BL/FnLn x I/FnLn)F1 controls, with a mean of 6.2mg/g rather than 4.4mg/g or 5.2mg/g respectively

muscle

increased skeletal muscle glycogen level ( J:5156 )

♀ • the glycogen content of resting skeletal muscle is slightly higher than that in C57BL/FnLn or (C57BL/FnLn x I/FnLn)F1 controls, with a mean of 6.2mg/g rather than 4.4mg/g or 5.2mg/g respectively

Genotype
MGI:4821273

ot4

• Allelic Composition: Phka1^I/FnLn/Y
• Genetic Background: (I/FnLn x C57BL/FnLn)F1

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:5156 )

♂ • the glycogen content of resting skeletal muscle in hemizygous males, but not heterozygous females, is two to three fold higher than that in C57BL/FnLn controls

muscle

increased skeletal muscle glycogen level ( J:5156 )

♂ • the glycogen content of resting skeletal muscle in hemizygous males, but not heterozygous females, is two to three fold higher than that in C57BL/FnLn controls

Genotype
MGI:4821274

ot5

• Allelic Composition: Phka1^I/FnLn/Y
• Genetic Background: I/FnLn

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:5156 )

♂ • the glycogen content of resting skeletal muscle in hemizygous males is three fold higher than that in C57BL/FnLn controls, with a mean of 13.1mg/g tissue versus 4mg/g

muscle

increased skeletal muscle glycogen level ( J:5156 )

♂ • the glycogen content of resting skeletal muscle in hemizygous males is three fold higher than that in C57BL/FnLn controls, with a mean of 13.1mg/g tissue versus 4mg/g

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IXd		DOID:0111040	OMIM:300559	J:42850