Phenotypes Associated with This Genotype

Genotype
MGI:3527165

• Allelic Composition: Sdhd^tm1Jlob/Sdhd⁺
• Genetic Background: involves: 129X1/SvJ

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

neoplasm

neoplasm ( J:95252 )

N • did not observe tumors in heterozygous mice under 1 year of age

cardiovascular system

abnormal type I cell of carotid body morphology ( J:95252 )

• increased carotid body glomus cell membrane surface compared to wild-type

• a slight, although significant, increase in the percentage of glomus cells in the carotid body of female heterozygotes

abnormal carotid body physiology ( J:95252 )

• spontaneous carotid body activity under normoxic conditions was increased by ~2.4-fold

abnormal type I cell of carotid body physiology ( J:95252 )

• the response to hypoxia of carotid body glomus cells was slightly increased due to persistent extracellular calcium influx through membrane channels into the glomus cells

• decrease in the total potassium current density and increase in the activation threshold of calcium-dependent potassium channels in carotid body glomus cells

cellular

abnormal respiratory electron transport chain ( J:95252 )

• mitochondrial complex II activity was ~50% lower than normal

nervous system

abnormal type I cell of carotid body morphology ( J:95252 )

• increased carotid body glomus cell membrane surface compared to wild-type

• a slight, although significant, increase in the percentage of glomus cells in the carotid body of female heterozygotes

abnormal type I cell of carotid body physiology ( J:95252 )

• the response to hypoxia of carotid body glomus cells was slightly increased due to persistent extracellular calcium influx through membrane channels into the glomus cells

• decrease in the total potassium current density and increase in the activation threshold of calcium-dependent potassium channels in carotid body glomus cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	paraganglioma	DOID:0050773	OMIM:115310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 OMIM:PS168000	J:95252