Phenotypes Associated with This Genotype

Genotype
MGI:3621470

• Allelic Composition: Hif1a^tm3Rsjo/Hif1a^tm3Rsjo; Tg(Ckmm-cre)5Khn/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

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

muscle

abnormal muscle physiology ( J:97761 )

• increase in muscle damage following exercise

homeostasis/metabolism

increased circulating creatine kinase level ( J:97761 )

• increased serum levels of the MM isoform of creatine kinase 1 day after exercise

abnormal glucose homeostasis ( J:97761 )

• significant decrease in lactate accumulation after exercise

abnormal exercise endurance ( J:97761 )

• increased endurance in swim tests and in the first session of running uphill (concentric exercise) but decreased endurance when running downhill (eccentric exercise)

• endurance decreased over 4 consecutive days of daily treadmill running

nervous system

abnormal innervation pattern to muscle ( J:97761 )

• slight but statistically significant decrease in type IIa fibers in the soleus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease V		DOID:2746	OMIM:232600	J:97761
glycogen storage disease VII		DOID:11721	OMIM:232800	J:97761