All Phenotypes Tg(Camk2a-cre)#Szi MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Uqcrfs1^tm1Ctm/Uqcrfs1^tm1Ctm Tg(Camk2a-cre)#Szi/0	involves: 129 * C57BL/6 * C57BL/6J * CBA	MGI:5444471
cn2	Ndufa5^{Gt(RRK279)Byg}/Ndufa5^{Gt(RRK279)Byg} Tg(Camk2a-cre)#Szi/0 Tg(Gt(ROSA)26Sor-Ndufa5)#Ctm/0	involves: 129P2/OlaHsd * C57BL/6J * CBA * SJL	MGI:5563770
cn3	Actb^tm1(INSR)Dac/Actb^tm1(INSR)Dac Insr^tm1Dac/Insr^tm1Dac Tg(Camk2a-cre)#Szi/?	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J * CBA	MGI:4831152
cn4	Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Camk2a-cre)#Szi/0	involves: 129S4/SvJae * BALB/cJ * C57BL/6J * C57BL/6NTac * CBA	MGI:3811792
cn5	Itga8^tm1.1Rdav/Itga8^tm1.1Rdav Tg(Camk2a-cre)#Szi/0	involves: 129S6/SvEvTac * C57BL/6J * CBA	MGI:4948114
cn6	Cox10^tm1Ctm/Cox10^tm1Ctm Tg(Camk2a-cre)#Szi/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6J * CBA	MGI:5444474

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

mortality/aging

premature death ( J:188773 )

• sudden death between 3 and 3.5 months of age

growth/size/body

decreased body weight ( J:188773 )

• mutants weight less than littermate controls, especially females

behavior/neurological

impaired coordination ( J:188773 )

• decrease in rotarod performance at 2 months of age, with a rapid decline such that mutants are unable to perform the test 15 days later

decreased locomotor activity ( J:188773 )

• lower nocturnal ambulatory movement than controls

cellular

abnormal mitochondrial physiology ( J:188773 )

• mutants exhibit 43% and 40% of mitochondrial respiratory complex III (CIII) activity of control levels in cortex and hippocampus, respectively, at 1 month of age and 25% and 14% of control levels in cortex and hippocampus, respectively, at 110 days of age

• mutants exhibit an increase in enzymatic activity of mitochondrial respiratory complex IV (CIV) and citrate synthase of 114% and 115%, respectively, at 2.5 months of age in the cortex

• mutants exhibit an increase in enzymatic activity of CIV and citrate synthase to 120% and 121% of control values, respectively, in the hippocampus

increased mitochondrial fission ( J:188773 )

• the ratio of ND1 to actin is higher in mutants at 3 months of age and there is a slight increase in mitochondrial proteins, indicating evidence of mitochondrial proliferation at this time

nervous system

decreased brain weight ( J:188773 )

• at 3 months of age

abnormal somatosensory cortex morphology ( J:188773 )

• neuronal cell death in the somatosensory cortex at 3 months of age right before their death, but not earlier

abnormal piriform cortex morphology ( J:188773 )

• mutants show oxidative damage in the piriform cortex by 1 month of age and neuronal cell death after 3 months of age

neurodegeneration ( J:188773 )

• mutants exhibit progressive encephalopathy, showing lesions in the piriform area at 66 days of age, which worsen and extend to posterior parts of the brain within 18 days

neuron degeneration ( J:188773 )

• mutants consistently show neuronal cell death in the somatosensory cortex, piriform cortex and hippocampus at 3 months of age right before their death, but not earlier

hippocampal neuron degeneration ( J:188773 )

• neuronal cell death in the hippocampus at 3 months of age right before their death, but not earlier

abnormal glial cell physiology ( J:188773 )

• mutants exhibit a slight increase in GFAP immunoreactivity in the cortex, hippocampus, and piriform cortex at 3-3.5 months of age, indicating reactive glia

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:188773 )

• mutants exhibit decreased mitochondrial respiratory complex II enzymatic activity and increased enzymatic activity of mitochondrial respiratory complex IV and citrate synthase in the cortex and hippocampus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial metabolism disease		DOID:700		J:188773

Allelic Composition	Ndufa5^{Gt(RRK279)Byg}/Ndufa5^{Gt(RRK279)Byg} Tg(Camk2a-cre)#Szi/0 Tg(Gt(ROSA)26Sor-Ndufa5)#Ctm/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * CBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndufa5^{Gt(RRK279)Byg} mutation (0 available); any Ndufa5 mutation (13 available)
Tg(Camk2a-cre)#Szi mutation (0 available)
Tg(Gt(ROSA)26Sor-Ndufa5)#Ctm mutation (0 available)

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

behavior/neurological

lethargy ( J:206222 )

• at 10 to 11 months

limb grasping ( J:206222 )

• at 10 to 11 months

impaired coordination ( J:206222 )

• at 10 to 11 months, mice exhibit longer latency in a pole descent test and reduced motor coordination in the grid and beam-walking tests compared with control mice

cellular

abnormal respiratory electron transport chain ( J:206222 )

• mice exhibit complex I deficiency in the cortex compared with wild-type mice

nervous system

nervous system phenotype ( J:206222 )

N	• at 11 months, cortex morphology is normal without oxidative damage

Allelic Composition	Actb^tm1(INSR)Dac/Actb^tm1(INSR)Dac Insr^tm1Dac/Insr^tm1Dac Tg(Camk2a-cre)#Szi/?
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actb^tm1(INSR)Dac mutation (0 available); any Actb mutation (51 available)
Insr^tm1Dac mutation (2 available); any Insr mutation (94 available)
Tg(Camk2a-cre)#Szi mutation (0 available)

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

mortality/aging

premature death ( J:91350 )

• die between 6 and 8 weeks

homeostasis/metabolism

increased circulating glucose level ( J:91350 )

• diabetic in one week

increased circulating insulin level ( J:91350 )

• extremely elevated

Allelic Composition	Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Camk2a-cre)#Szi/0
Genetic Background	involves: 129S4/SvJae * BALB/cJ * C57BL/6J * C57BL/6NTac * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Camk2a-cre)#Szi mutation (0 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (69 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:138621 )

• mice die within the first postnatal week

• however, treatment with rapamycin improves phenotype

behavior/neurological

limb grasping ( J:138621 )

• mice clasp hindlimbs unlike wild-type mice

• however, treatment with rapamycin improves phenotype

decreased locomotor activity ( J:138621 )

• mice are severely hypoactive compared to wild-type mice

• however, treatment with rapamycin improves phenotype

nervous system

increased brain weight ( J:138621 )

• brain weight is 2.5-fold greater than in wild-type mice

• however, treatment with rapamycin improves phenotype

astrocytosis ( J:138621 )

neuron hypertrophy ( J:138621 )

Allelic Composition	Itga8^tm1.1Rdav/Itga8^tm1.1Rdav Tg(Camk2a-cre)#Szi/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga8^tm1.1Rdav mutation (1 available); any Itga8 mutation (74 available)
Tg(Camk2a-cre)#Szi mutation (0 available)

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

nervous system

impaired synaptic plasticity ( J:170959 )

• N-methyl-D-aspartate receptor-dependent long term potentiation is lower than in wild-type mice

reduced long-term potentiation ( J:170959 )

• N-methyl-D-aspartate receptor-dependent long term potentiation is lower than in wild-type mice

behavior/neurological

behavior/neurological phenotype ( J:170959 )

N	• mice exhibit normal motor learning, habituation, anxiety and hippocampal-dependent spatial learning, and memory

Allelic Composition	Cox10^tm1Ctm/Cox10^tm1Ctm Tg(Camk2a-cre)#Szi/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cox10^tm1Ctm mutation (1 available); any Cox10 mutation (20 available)
Tg(Camk2a-cre)#Szi mutation (0 available)

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

mortality/aging

premature death ( J:188773 )

• die between 8 and 12 months of age

growth/size/body

decreased body weight ( J:188773 )

• mutants weight less than littermate controls after 4 and 5 months of age, for females and males, respectively

behavior/neurological

impaired coordination ( J:188773 )

• decrease in rotarod performance first seen at 3 and 4 months of age for males and females, respectively

abnormal locomotor activation ( J:188773 )

• at 3 months of age, mutants start to decrease their nocturnal activity and by 4 months, cycles of hyperactivity are seen and continue throughout their life span

cellular

abnormal mitochondrial physiology ( J:188773 )

• mutants exhibit 80% of mitochondrial respiratory complex IV (CIV) activity of control levels in the cortex at 1 month of age and 33% of control levels by 4 months of age

• mutants exhibit decreased CIV activity in the hippocampus as well

nervous system

decreased brain weight ( J:188773 )

• brain weight is normal at 1-4 months of age, however by 8 months of age, brains weigh about half of control weight

abnormal cerebral cortex morphology ( J:188773 )

• severe cortical atrophy by 8 months of age

abnormal cingulate gyrus morphology ( J:188773 )

• neuronal cell death in the cingulate cortex at 4 months of age, but not earlier

abnormal piriform cortex morphology ( J:188773 )

• mutants show oxidative damage in the piriform cortex at 4 months of age and neuronal cell death at this time but not earlier

neurodegeneration ( J:188773 )

• mutants exhibit progressive encephalopathy, with small lesions in the piriform cortex at 4 months of age, lesions in the striatum, outer cortical layers and hippocampus by 6 months of age, and massive degeneration of the cortex by 8 months of age

neuron degeneration ( J:188773 )

• mutants consistently show neuronal cell death in the cingulate cortex, piriform cortex, and hippocampus/dentate gyrus at 4 months of age, but not earlier

hippocampal neuron degeneration ( J:188773 )

• the hippocampus/dentate gyrus and CA1 region shows neuronal loss at 4 months of age

abnormal nervous system physiology ( J:188773 )

• mutants show metabolic changes in the brain, with elevated levels of lactate and a decrease in n-acetyl aspartate

abnormal glial cell physiology ( J:188773 )

• mutants exhibit a dramatic increase in GFAP immunoreactivity in the cortex and somewhat smaller increase in the hippocampus and piriform cortex at 4-5 months of age, indicating reactive glia

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:188773 )

• mutants exhibit decreased mitochondrial respiratory complex IV enzymatic activity in the cortex and hippocampus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cytochrome-c oxidase deficiency disease		DOID:3762	OMIM:PS220110	J:188773

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