All Phenotypes Sdhd<tm1Jlob> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sdhd^tm1Jlob
targeted mutation 1, Jose Lopez-Barneo
MGI:3526521

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sdhd^tm1Jlob/Sdhd^tm1Jlob	involves: 129X1/SvJ	MGI:3527164
ht2	Sdhd^tm1Jlob/Sdhd⁺	involves: 129X1/SvJ	MGI:3527165
cn3	Sdhd^tm1Jlob/Sdhd^tm2Jlob Th^tm1(cre)Te/Th⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5438130
cn4	Sdhd^tm1Jlob/Sdhd^tm2Jlob Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5438129
cx5	Sdhb^{Gt(AP0532)Wtsi}/Sdhb⁺ Sdhc^{Gt(BA0521)Wtsi}/Sdhc⁺ Sdhd^tm1Jlob/Sdhd⁺	involves: 129P2/OlaHsd	MGI:6105936

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdhd^tm1Jlob mutation (1 available); any Sdhd mutation (16 available)

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:95252 )

• homozygotes die before E7.5

embryo

embryonic growth arrest ( J:95252 )

• at E7.5, embryos were arrested several hours before and at E9.5, embryos were stalled at a previous stage

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdhd^tm1Jlob mutation (1 available); any Sdhd mutation (16 available)

♀	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

Allelic Composition	Sdhd^tm1Jlob/Sdhd^tm2Jlob Th^tm1(cre)Te/Th⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdhd^tm1Jlob mutation (1 available); any Sdhd mutation (16 available)
Sdhd^tm2Jlob mutation (1 available); any Sdhd mutation (16 available)
Th^tm1(cre)Te mutation (1 available); any Th mutation (58 available)

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

mortality/aging

premature death ( J:186713 )

• most mice die before the first year of age

nervous system

abnormal adrenal chromaffin cell morphology ( J:186713 )

• adrenal medulla chromaffin cells exhibit decreased intracellular ATP compared with wild-type cells

• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice

abnormal dopaminergic neuron morphology ( J:186713 )

• exhibit impaired maturation and accelerated degeneration of dopaminergic cells, aggressively in the substantia nigra pars compacta, compared with wild-type mice

loss of dopaminergic neurons ( J:186713 )

decreased neuron number ( J:186713 )

• mice exhibit decreased neuron numbers in the adrenal medulla, carotid body and superior cervical ganglion compared with wild-type mice

• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice

• progressive reduction in the ventral mesencephalic TH+ neurons with almost complete disappearance of neurons between 6 and 12 months

• neurons loss is less severe in the ventral tegmental area

• however, treatment with an antioxidant in the drinking water rescues neuron survival

behavior/neurological

decreased locomotor activity ( J:186713 )

• progressive bradykinetic syndrome with decreased distance traveled in the open field and increase in time spent at rest

bradykinesia ( J:186713 )

• progressive bradykinetic syndrome with decreased distance traveled in the open field and increase in time spent at rest

endocrine/exocrine glands

abnormal adrenal chromaffin cell morphology ( J:186713 )

• adrenal medulla chromaffin cells exhibit decreased intracellular ATP compared with wild-type cells

• mice exhibit a decrease in catecholaminergic cells compared with wild-type mice

homeostasis/metabolism

decreased dopamine level ( J:186713 )

• at 2.5 months, mice fail to exhibit an increase in dopamine and its metabolites unlike in wild-type mice

cellular

oxidative stress ( J:186713 )

• increased lipid peroxidation in the adrenal medulla

growth/size/body

decreased birth body size ( J:186713 )

neoplasm

neoplasm ( J:186713 )

N	• mice do not develop tumors

Allelic Composition	Sdhd^tm1Jlob/Sdhd^tm2Jlob Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Find Mice

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

mortality/aging

premature death ( J:186713 )

• in tamoxifen-treated mice

nervous system

nervous system phenotype ( J:186713 )

N	• tamoxifen-treatment does not affect brain catecholaminergic neurons matured at birth

cardiovascular system

abnormal carotid body morphology ( J:186713 )

• tamoxifen-treated mice exhibit a trend towards degeneration of the carotid body

neoplasm

neoplasm ( J:186713 )

N	• tamoxifen-treated mice do not develop tumors

Allelic Composition	Sdhb^{Gt(AP0532)Wtsi}/Sdhb⁺ Sdhc^{Gt(BA0521)Wtsi}/Sdhc⁺ Sdhd^tm1Jlob/Sdhd⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdhb^{Gt(AP0532)Wtsi} mutation (0 available); any Sdhb mutation (29 available)
Sdhc^{Gt(BA0521)Wtsi} mutation (0 available); any Sdhc mutation (83 available)
Sdhd^tm1Jlob mutation (1 available); any Sdhd mutation (16 available)

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

hematopoietic system

abnormal hemoglobin content ( J:242046 )

• reduced increase in blood hemoglobin levels when housed in hypoxic chamber

homeostasis/metabolism

hypoxia ( J:242046 )

• reduced increase in blood hemoglobin levels when housed in hypoxic chamber

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